esv3884862

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:13
Validation:Not tested
Clinical Assertions: No
Region Size:10,659

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: 233 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):14,455,871-14,466,529

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3884862	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
esv3884862	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	14,436,517	14,447,175

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24777661	copy number loss	HG00742	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,133
essv24777662	copy number loss	HG02768	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv24777663	copy number loss	HG02890	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,920
essv24777664	copy number loss	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv24777665	copy number loss	NA06985	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,329
essv24777666	copy number loss	NA19092	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,988
essv24777667	copy number loss	NA19102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,889
essv24777668	copy number loss	NA19625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,753
essv24777669	copy number loss	NA19712	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,825
essv24777670	copy number loss	NA20274	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,714
essv24777671	copy number gain	HG02224	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv24777672	copy number gain	NA19316	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,137
essv24777673	copy number gain	NA19317	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,484

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24777661	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777662	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777663	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777664	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777665	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777666	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777667	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777668	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777669	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777670	Remapped	Perfect	NC_000020.11:g.144 55871_14466529del	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777671	Remapped	Perfect	NC_000020.11:g.144 55871_14466529dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777672	Remapped	Perfect	NC_000020.11:g.144 55871_14466529dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777673	Remapped	Perfect	NC_000020.11:g.144 55871_14466529dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	14,455,871	14,466,529
essv24777661	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777662	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777663	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777664	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777665	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777666	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777667	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777668	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777669	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777670	Submitted genomic		NC_000020.10:g.144 36517_14447175del	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777671	Submitted genomic		NC_000020.10:g.144 36517_14447175dup	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777672	Submitted genomic		NC_000020.10:g.144 36517_14447175dup	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175
essv24777673	Submitted genomic		NC_000020.10:g.144 36517_14447175dup	GRCh37 (hg19)		NC_000020.10	Chr20	14,436,517	14,447,175

dbVar

Database of genomic structural variation

esv3884862

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.