A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760106



Internal ID10376414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:24086334..24096443hg38UCSC Ensembl
Innerchr10:24375263..24385372hg19UCSC Ensembl
Innerchr10:24415269..24425378hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3810110
hg1910110
hg1810110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018224, essv7018225, essv7018221, essv7018219, essv7018210, essv7018228, essv7018214, essv7018208, essv7018220, essv7018213, essv7018226, essv7018223, essv7018218, essv7018227, essv7018229, essv7018215, essv7018216, essv7018212, essv7018209, essv7018217
SamplesRW_0583, RW_0196, RW_0134, RW_0243, RW_0218, RW_0112, RW_0253, RW_0155, RW_0211, RW_0327, RW_0281, RW_0193, RW_0308, RW_0669, RW_0284, RW_0238, RW_0652, RW_0060, RW_0594, RW_0344
Known GenesKIAA1217
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)esv2760106
Frequency
Sample Size1109
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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