esv3874459

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:31
Validation:Not tested
Clinical Assertions: No
Region Size:20,063

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: 1395 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):24,294,482-24,314,544

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3874459	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
esv3874459	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	24,539,629	24,559,691

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23668480	copy number loss	HG00123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,289
essv23668481	copy number loss	HG01140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv23668482	copy number loss	HG01626	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,177
essv23668483	copy number loss	HG02628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,138
essv23668484	copy number loss	HG03123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,821
essv23668485	copy number loss	NA18534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,434
essv23668486	copy number loss	NA18942	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,414
essv23668487	copy number loss	NA19204	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,129
essv23668488	copy number loss	NA19238	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,190
essv23668489	copy number loss	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv23668490	copy number loss	NA19788	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,263
essv23668491	copy number loss	NA19795	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,467
essv23668492	copy number loss	NA21107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,587
essv23668493	copy number gain	HG00173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,003
essv23668494	copy number gain	HG00258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,495
essv23668495	copy number gain	HG00637	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,674
essv23668496	copy number gain	HG01083	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,348
essv23668497	copy number gain	HG01777	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv23668498	copy number gain	HG02256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,624
essv23668499	copy number gain	HG02330	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,018
essv23668500	copy number gain	HG02769	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,837
essv23668501	copy number gain	HG02811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,314
essv23668502	copy number gain	HG03055	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,895
essv23668503	copy number gain	HG03189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,973
essv23668504	copy number gain	HG03473	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,659
essv23668505	copy number gain	HG03999	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,526
essv23668506	copy number gain	HG04023	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,089
essv23668507	copy number gain	NA11918	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,158
essv23668508	copy number gain	NA18939	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,322
essv23668509	copy number gain	NA19197	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,084
essv23668510	copy number gain	NA19201	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23668480	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668481	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668482	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668483	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668484	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668485	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668486	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668487	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668488	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668489	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668490	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668491	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668492	Remapped	Perfect	NC_000015.10:g.242 94482_24314544del	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668493	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668494	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668495	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668496	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668497	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668498	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668499	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668500	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668501	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668502	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668503	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668504	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668505	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668506	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668507	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668508	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668509	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668510	Remapped	Perfect	NC_000015.10:g.242 94482_24314544dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	24,294,482	24,314,544
essv23668480	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668481	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668482	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668483	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668484	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668485	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668486	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668487	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668488	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668489	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668490	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668491	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668492	Submitted genomic		NC_000015.9:g.2453 9629_24559691del	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668493	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668494	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668495	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668496	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668497	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668498	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668499	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668500	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668501	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668502	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668503	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668504	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668505	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668506	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668507	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668508	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668509	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691
essv23668510	Submitted genomic		NC_000015.9:g.2453 9629_24559691dup	GRCh37 (hg19)		NC_000015.9	Chr15	24,539,629	24,559,691

dbVar

Database of genomic structural variation

esv3874459

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.