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dbVar

Database of genomic structural variation

esv3610676

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:15,146

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: 156 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):124,889,205-124,906,350

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3610676	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
esv3610676	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12535814	deletion	SAMN01761383	Sequencing	Read depth and paired-end mapping	Heterozygous	2,852
essv12535815	deletion	SAMN01096687	Sequencing	Read depth and paired-end mapping	Heterozygous	2,738
essv12535816	deletion	SAMN01090924	Sequencing	Read depth and paired-end mapping	Heterozygous	2,729
essv12535817	deletion	SAMN01761432	Sequencing	Read depth and paired-end mapping	Homozygous	2,213
essv12535818	deletion	SAMN01091013	Sequencing	Read depth and paired-end mapping	Heterozygous	2,807
essv12535819	deletion	SAMN01096774	Sequencing	Read depth and paired-end mapping	Heterozygous	2,618
essv12535820	deletion	SAMN01090949	Sequencing	Read depth and paired-end mapping	Heterozygous	2,883
essv12535821	deletion	SAMN01761461	Sequencing	Read depth and paired-end mapping	Heterozygous	2,355

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12535814	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535815	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535816	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535817	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535818	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535819	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535820	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535821	Remapped	Perfect	NC_000006.12:g.(12 4889205_124890705) _(124904850_124906 350)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,890,205 (-1000, +500)	124,905,350 (-500, +1000)
essv12535814	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535815	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535816	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535817	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535818	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535819	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535820	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)
essv12535821	Submitted genomic		NC_000006.11:g.(12 5210351_125211851) _(125225996_125227 496)del	GRCh37 (hg19)		NC_000006.11	Chr6	125,211,351 (-1000, +500)	125,226,496 (-500, +1000)

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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