A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760310



Internal ID10376618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24998780..25015857hg38UCSC Ensembl
Innerchr13:25572918..25589995hg19UCSC Ensembl
Innerchr13:24470918..24487995hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3817078
hg1917078
hg1817078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021283, essv7021284, essv7021282, essv7021285, essv7021280, essv7021274, essv7021272, essv7021276, essv7021278, essv7021279, essv7021273, essv7021281, essv7021275
SamplesRW_0203, RW_0348, RW_0196, RW_0187, RW_0560, RW_0025, RW_0005, RW_0666, RW_0195, RW_0073, RW_0021, RW_0190, RW_0060
Known Genes
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)esv2760310
Frequency
Sample Size1109
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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