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dbVar

Database of genomic structural variation

esv3644614

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:43,395

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: 399 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):49,130,606-49,174,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3644614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	49,130,606	49,174,000
esv3644614	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	49,633,863	49,677,257

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16075177	duplication	SAMN00630204	Sequencing	Read depth and paired-end mapping	Heterozygous	3,157
essv16075178	duplication	SAMN01036779	Sequencing	Read depth and paired-end mapping	Heterozygous	3,152
essv16075179	duplication	SAMN01761250	Sequencing	Read depth and paired-end mapping	Heterozygous	3,382

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16075177	Remapped	Perfect	NC_000019.10:g.491 30606_49174000dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,130,606	49,174,000
essv16075178	Remapped	Perfect	NC_000019.10:g.491 30606_49174000dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,130,606	49,174,000
essv16075179	Remapped	Perfect	NC_000019.10:g.491 30606_49174000dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,130,606	49,174,000
essv16075177	Submitted genomic		NC_000019.9:g.4963 3863_49677257dup	GRCh37 (hg19)		NC_000019.9	Chr19	49,633,863	49,677,257
essv16075178	Submitted genomic		NC_000019.9:g.4963 3863_49677257dup	GRCh37 (hg19)		NC_000019.9	Chr19	49,633,863	49,677,257
essv16075179	Submitted genomic		NC_000019.9:g.4963 3863_49677257dup	GRCh37 (hg19)		NC_000019.9	Chr19	49,633,863	49,677,257

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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