A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763672



Internal ID10376352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64284215..64324800hg38UCSC Ensembl
Innerchr20:62915568..62956153hg19UCSC Ensembl
Innerchr20:62386012..62426597hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3840586
hg1940586
hg1840586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e203
Supporting Variantsessv7004233, essv7004230, essv7004243, essv7004241, essv7004246, essv7004232, essv7004248, essv7004240, essv7004244, essv7004239, essv7004238, essv7004236, essv7004247, essv7004249, essv7004242, essv7004237, essv7004250, essv7004235, essv7004231
SamplesSW_0635, SW_1070, SW_0063, SW_1143, SW_0046, SW_0609, SW_1285, SW_0605, SW_1204, SW_1028, SW_1171, SW_1193, SW_0829, SW_0678, SW_0883, SW_0632, SW_0001, SW_0627, SW_0844
Known GenesLINC00266-1
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)esv2763672
Frequency
Sample Size1109
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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