A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761957



Internal ID10029307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40931731..41024070hg38UCSC Ensembl
Innerchr17:39087983..39180322hg19UCSC Ensembl
Innerchr17:36341509..36433848hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3892340
hg1992340
hg1892340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002064
SamplesSW_1098
Known GenesKRT23, KRT39, KRT40, KRTAP3-1, KRTAP3-2, KRTAP3-3
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)esv2761957
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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