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dbVar

Database of genomic structural variation

esv3637958

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:17,772

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: 232 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):12,317,553-12,337,324

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3637958	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
esv3637958	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15377427	deletion	SAMN00006390	Sequencing	Read depth and paired-end mapping	Heterozygous	2,374
essv15377428	deletion	SAMN00006420	Sequencing	Read depth and paired-end mapping	Heterozygous	2,805
essv15377429	deletion	SAMN00004683	Sequencing	Read depth and paired-end mapping	Heterozygous	2,887
essv15377430	deletion	SAMN00006561	Sequencing	Read depth and paired-end mapping	Heterozygous	2,710
essv15377431	deletion	SAMN00001607	Sequencing	Read depth and paired-end mapping	Heterozygous	2,740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15377427	Remapped	Perfect	NC_000016.10:g.(12 317553_12319053)_( 12335824_12337324) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
essv15377428	Remapped	Perfect	NC_000016.10:g.(12 317553_12319053)_( 12335824_12337324) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
essv15377429	Remapped	Perfect	NC_000016.10:g.(12 317553_12319053)_( 12335824_12337324) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
essv15377430	Remapped	Perfect	NC_000016.10:g.(12 317553_12319053)_( 12335824_12337324) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
essv15377431	Remapped	Perfect	NC_000016.10:g.(12 317553_12319053)_( 12335824_12337324) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	12,318,553 (-1000, +500)	12,336,324 (-500, +1000)
essv15377427	Submitted genomic		NC_000016.9:g.(124 11410_12412910)_(1 2429681_12431181)d el	GRCh37 (hg19)		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-500, +1000)
essv15377428	Submitted genomic		NC_000016.9:g.(124 11410_12412910)_(1 2429681_12431181)d el	GRCh37 (hg19)		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-500, +1000)
essv15377429	Submitted genomic		NC_000016.9:g.(124 11410_12412910)_(1 2429681_12431181)d el	GRCh37 (hg19)		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-500, +1000)
essv15377430	Submitted genomic		NC_000016.9:g.(124 11410_12412910)_(1 2429681_12431181)d el	GRCh37 (hg19)		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-500, +1000)
essv15377431	Submitted genomic		NC_000016.9:g.(124 11410_12412910)_(1 2429681_12431181)d el	GRCh37 (hg19)		NC_000016.9	Chr16	12,412,410 (-1000, +500)	12,430,181 (-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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