A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760705



Internal ID10028067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44629373..44694682hg38UCSC Ensembl
Innerchr21:46049290..46114597hg19UCSC Ensembl
Innerchr21:44873718..44939025hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3865310
hg1965308
hg1865308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026591, essv7026590
SamplesRW_0140, RW_0064
Known GenesKRTAP10-10, KRTAP10-11, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, TSPEAR
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)esv2760705
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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