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dbVar

Database of genomic structural variation

esv3606011

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:125,749

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 582 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):101,647,194-101,772,942

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3606011	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
esv3606011	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	100,982,898	101,108,646

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12000033	copy number loss	SAMN00009245	Sequencing	Read depth and paired-end mapping	Homozygous	2,611
essv12000034	copy number loss	SAMN00014318	Sequencing	Read depth and paired-end mapping	Heterozygous	2,631
essv12000035	copy number loss	SAMN00014344	Sequencing	Read depth and paired-end mapping	Heterozygous	2,999
essv12000036	copy number loss	SAMN01761636	Sequencing	Read depth and paired-end mapping	Homozygous	2,134
essv12000037	copy number loss	SAMN01090850	Sequencing	Read depth and paired-end mapping	Homozygous	2,923
essv12000038	copy number gain	SAMN00006429	Sequencing	Read depth and paired-end mapping	Heterozygous	2,737

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12000033	Remapped	Perfect	NC_000005.10:g.101 647194_101772942de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000034	Remapped	Perfect	NC_000005.10:g.101 647194_101772942de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000035	Remapped	Perfect	NC_000005.10:g.101 647194_101772942de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000036	Remapped	Perfect	NC_000005.10:g.101 647194_101772942de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000037	Remapped	Perfect	NC_000005.10:g.101 647194_101772942de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000038	Remapped	Perfect	NC_000005.10:g.101 647194_101772942du p	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,647,194	101,772,942
essv12000033	Submitted genomic		NC_000005.9:g.1009 82898_101108646del	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646
essv12000034	Submitted genomic		NC_000005.9:g.1009 82898_101108646del	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646
essv12000035	Submitted genomic		NC_000005.9:g.1009 82898_101108646del	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646
essv12000036	Submitted genomic		NC_000005.9:g.1009 82898_101108646del	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646
essv12000037	Submitted genomic		NC_000005.9:g.1009 82898_101108646del	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646
essv12000038	Submitted genomic		NC_000005.9:g.1009 82898_101108646dup	GRCh37 (hg19)		NC_000005.9	Chr5	100,982,898	101,108,646

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.

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