A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761288



Internal ID10377595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:97874636..97886045hg38UCSC Ensembl
Innerchr13:98526890..98538299hg19UCSC Ensembl
Innerchr13:97324891..97336300hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3811410
hg1911410
hg1811410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998241, essv6998231, essv6998237, essv6998236, essv6998240, essv6998232, essv6998230, essv6998229, essv6998243, essv6998238, essv6998224, essv6998228, essv6998225, essv6998239, essv6998242, essv6998226, essv6998227, essv6998234, essv6998235
SamplesSW_0201, SW_0885, SW_1535, SW_1436, SW_1143, SW_0115, SW_0874, SW_0660, SW_0032, SW_0759, SW_1085, SW_1289, SW_1527, SW_0859, SW_0021, SW_0165, SW_0592, SW_0586, SW_0790
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)esv2761288
Frequency
Sample Size1109
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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