A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760636



Internal ID10376943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29418334..29423558hg38UCSC Ensembl
Innerchr2:29641200..29646424hg19UCSC Ensembl
Innerchr2:29494704..29499928hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385225
hg195225
hg185225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007363, essv7007358, essv7007351, essv7007361, essv7007356, essv7007364, essv7007353, essv7007359, essv7007357, essv7007365, essv7007362, essv7007360, essv7007368, essv7007354, essv7007352, essv7007367
SamplesRW_0203, RW_0292, RW_0258, RW_0178, RW_0141, RW_0146, RW_0216, RW_0082, RW_0267, RW_0539, RW_0065, RW_0655, RW_0117, RW_0164, RW_0184, RW_0573
Known GenesALK
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)esv2760636
Frequency
Sample Size1109
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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