A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764200



Internal ID10031550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25336853hg38UCSC Ensembl
Innerchr1:25593128..25663344hg19UCSC Ensembl
Innerchr1:25465715..25535931hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3870217
hg1970217
hg1870217
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005230, essv7005269, essv7005263, essv7005248, essv7005259, essv7005268, essv7005252, essv7005253, essv7005231, essv7005243, essv7005238, essv7005265, essv7005242, essv7005251, essv7005254, essv7005241, essv7005247, essv7005232, essv7005274, essv7005246, essv7005244, essv7005266, essv7005255, essv7005275, essv7005264, essv7005235, essv7005258, essv7005272, essv7005240, essv7005233, essv7005271, essv7005237, essv7005273, essv7005236, essv7005261, essv7005260, essv7005257, essv7005250, essv7005239, essv7005249, essv7005262, essv7005270
SamplesRW_0123, RW_0220, RW_0325, RW_0042, RW_0129, RW_0587, RW_0502, RW_0310, RW_0168, RW_0624, RW_0018, RW_0173, RW_0571, RW_0664, RW_0152, RW_0049, RW_0158, RW_0088, RW_0209, RW_0068, RW_0106, RW_0216, RW_0253, RW_0023, RW_0171, RW_0227, RW_0064, RW_0550, RW_0564, RW_0132, RW_0241, RW_0615, RW_0072, RW_0017, RW_0568, RW_0025, RW_0513, RW_0554, RW_0053, RW_0254, RW_0079, RW_0190
Known GenesRHD
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2764200
Frequency
Sample Size1109
Observed Gain6
Observed Loss36
Observed Complex0
Frequencyn/a


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