esv3877979

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:37
Validation:Not tested
Clinical Assertions: No
Region Size:16,787

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 370 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):74,337,347-74,354,133

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3877979	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
esv3877979	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	74,371,245	74,388,031

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24049655	copy number loss	HG00127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,694
essv24049656	copy number loss	HG00171	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,139
essv24049657	copy number loss	HG01069	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,646
essv24049658	copy number loss	HG01075	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,747
essv24049659	copy number loss	HG01360	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,810
essv24049660	copy number loss	HG01435	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv24049661	copy number loss	HG01474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,773
essv24049662	copy number loss	HG01686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,588
essv24049663	copy number loss	HG01702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,332
essv24049664	copy number loss	HG01768	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,354
essv24049665	copy number loss	HG01785	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,058
essv24049666	copy number loss	HG01965	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,114
essv24049667	copy number loss	HG02652	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,436
essv24049668	copy number loss	HG02722	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,008
essv24049669	copy number loss	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv24049670	copy number loss	HG03642	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,392
essv24049671	copy number loss	HG03673	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,415
essv24049672	copy number loss	HG03750	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,586
essv24049673	copy number loss	HG03752	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,251
essv24049674	copy number loss	HG03867	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,409
essv24049675	copy number loss	HG03902	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,510
essv24049676	copy number loss	HG03976	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,405
essv24049677	copy number loss	NA12045	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,512
essv24049678	copy number loss	NA12813	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,188
essv24049679	copy number loss	NA19377	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,671
essv24049680	copy number loss	NA19437	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,019
essv24049681	copy number loss	NA20543	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,670
essv24049682	copy number loss	NA20800	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,274
essv24049683	copy number loss	NA20811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,774
essv24049684	copy number gain	HG00671	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,639
essv24049685	copy number gain	HG01613	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,136
essv24049686	copy number gain	HG03432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,484
essv24049687	copy number gain	HG04161	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,729
essv24049688	copy number gain	NA12716	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,650
essv24049689	copy number gain	NA19394	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,957
essv24049690	copy number gain	NA19401	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,730
essv24049691	copy number gain	NA19404	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,691

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24049655	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049656	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049657	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049658	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049659	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049660	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049661	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049662	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049663	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049664	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049665	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049666	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049667	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049668	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049669	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049670	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049671	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049672	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049673	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049674	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049675	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049676	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049677	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049678	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049679	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049680	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049681	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049682	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049683	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049684	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049685	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049686	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049687	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049688	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049689	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049690	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049691	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv24049655	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049656	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049657	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049658	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049659	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049660	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049661	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049662	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049663	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049664	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049665	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049666	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049667	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049668	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049669	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049670	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049671	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049672	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049673	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049674	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049675	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049676	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049677	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049678	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049679	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049680	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049681	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049682	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049683	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049684	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049685	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049686	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049687	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049688	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049689	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049690	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv24049691	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031

dbVar

Database of genomic structural variation

esv3877979

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.