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dbVar

Database of genomic structural variation

esv3982842

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:77,400

Publication(s):Fakhro 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: 560 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):16,600,342-16,677,741

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3982842	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	16,600,342	16,677,741
esv3982842	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	16,457,851	16,535,250

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25983563	deletion	DGMQ-31614	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,654
essv26032918	deletion	DGMQ-31717	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,423
essv25959228	deletion	DGMQ-31433	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,606

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25983563	Remapped	Perfect	NC_000008.11:g.(16 600342_?)_(?_16677 741)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,600,342	16,677,741
essv26032918	Remapped	Perfect	NC_000008.11:g.(16 600342_?)_(?_16677 741)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,600,342	16,677,741
essv25959228	Remapped	Perfect	NC_000008.11:g.(16 600497_?)_(?_16677 497)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,600,497	16,677,497
essv25983563	Submitted genomic		NC_000008.10:g.(16 457851_?)_(?_16535 250)del	GRCh37 (hg19)		NC_000008.10	Chr8	16,457,851	16,535,250
essv26032918	Submitted genomic		NC_000008.10:g.(16 457851_?)_(?_16535 250)del	GRCh37 (hg19)		NC_000008.10	Chr8	16,457,851	16,535,250
essv25959228	Submitted genomic		NC_000008.10:g.(16 458006_?)_(?_16535 006)del	GRCh37 (hg19)		NC_000008.10	Chr8	16,458,006	16,535,006

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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