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dbVar

Database of genomic structural variation

esv2756824

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:158,096

Publication(s):Redon et al. 2006

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: 857 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):68,308,501-68,466,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2756824	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,308,501	68,466,596
esv2756824	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	65,975,738	66,133,833
esv2756824	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000018.8	Chr18	64,126,718	64,284,813

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv14236	copy number loss	NA19100	SNP array	SNP genotyping analysis	112
essv13982	copy number loss	NA19098	SNP array	SNP genotyping analysis	109

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv14236	Remapped	Perfect	NC_000018.10:g.(68 308501_68338756)_( 68448771_68466596) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,308,501	68,338,756	68,448,771	68,466,596
essv13982	Remapped	Perfect	NC_000018.10:g.(68 338756_68338756)_( 68449214_68466596) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,338,756	68,338,756	68,449,214	68,466,596
essv14236	Remapped	Perfect	NC_000018.9:g.(659 75738_66005993)_(6 6116008_66133833)d el	GRCh37.p13	First Pass	NC_000018.9	Chr18	65,975,738	66,005,993	66,116,008	66,133,833
essv13982	Remapped	Perfect	NC_000018.9:g.(660 05993_66005993)_(6 6116451_66133833)d el	GRCh37.p13	First Pass	NC_000018.9	Chr18	66,005,993	66,005,993	66,116,451	66,133,833
essv14236	Submitted genomic		NC_000018.8:g.(641 26718_64156973)_(6 4266988_64284813)d el	NCBI35 (hg17)		NC_000018.8	Chr18	64,126,718	64,156,973	64,266,988	64,284,813
essv13982	Submitted genomic		NC_000018.8:g.(641 56973_64156973)_(6 4267431_64284813)d el	NCBI35 (hg17)		NC_000018.8	Chr18	64,156,973	64,156,973	64,267,431	64,284,813

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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