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dbVar

Database of genomic structural variation

esv3603243

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:120,854

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: 531 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):175,025,896-175,146,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3603243	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	175,025,896	175,146,749
esv3603243	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	175,947,047	176,067,900

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11712772	copy number loss	SAMN00007891	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv11712773	copy number loss	SAMN00007920	Sequencing	Read depth and paired-end mapping	Heterozygous	2,580
essv11712774	copy number gain	SAMN00004649	Sequencing	Read depth and paired-end mapping	Heterozygous	2,793

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11712772	Remapped	Perfect	NC_000004.12:g.175 025896_175146749de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	175,025,896	175,146,749
essv11712773	Remapped	Perfect	NC_000004.12:g.175 025896_175146749de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	175,025,896	175,146,749
essv11712774	Remapped	Perfect	NC_000004.12:g.175 025896_175146749du p	GRCh38.p12	First Pass	NC_000004.12	Chr4	175,025,896	175,146,749
essv11712772	Submitted genomic		NC_000004.11:g.175 947047_176067900de l	GRCh37 (hg19)		NC_000004.11	Chr4	175,947,047	176,067,900
essv11712773	Submitted genomic		NC_000004.11:g.175 947047_176067900de l	GRCh37 (hg19)		NC_000004.11	Chr4	175,947,047	176,067,900
essv11712774	Submitted genomic		NC_000004.11:g.175 947047_176067900du p	GRCh37 (hg19)		NC_000004.11	Chr4	175,947,047	176,067,900

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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