esv3850909

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:15
Validation:Not tested
Clinical Assertions: No
Region Size:17,729

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: 966 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):111,384,738-111,402,466

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850909	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
esv3850909	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	111,024,794	111,042,522

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20838461	copy number loss	HG00542	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,469
essv20838462	copy number loss	HG01497	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,137
essv20838463	copy number loss	HG03235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,323
essv20838464	copy number loss	HG03629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,771
essv20838465	copy number loss	HG03770	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,355
essv20838466	copy number loss	HG03928	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,278
essv20838467	copy number loss	NA07037	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,439
essv20838468	copy number loss	NA18562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv20838469	copy number loss	NA18629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095
essv20838470	copy number loss	NA19067	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,784
essv20838471	copy number loss	NA20854	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,362
essv20838472	copy number loss	NA20856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,304
essv20838473	copy number loss	NA20892	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,343
essv20838474	copy number loss	NA21087	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,542
essv20838475	copy number gain	HG02050	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,678

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838461	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838462	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838463	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838464	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838465	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838466	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838467	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838468	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838469	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838470	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838471	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838472	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838473	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838474	Remapped	Perfect	NC_000007.14:g.111 384738_111402466de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838475	Remapped	Perfect	NC_000007.14:g.111 384738_111402466du p	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,384,738	111,402,466
essv20838461	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838462	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838463	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838464	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838465	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838466	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838467	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838468	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838469	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838470	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838471	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838472	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838473	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838474	Submitted genomic		NC_000007.13:g.111 024794_111042522de l	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522
essv20838475	Submitted genomic		NC_000007.13:g.111 024794_111042522du p	GRCh37 (hg19)		NC_000007.13	Chr7	111,024,794	111,042,522

dbVar

Database of genomic structural variation

esv3850909

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.