A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6818n54



Internal ID22774713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42047375..42048400hg38UCSC Ensembl
chr2:42274515..42275540hg19UCSC Ensembl
chr2:42128019..42129044hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381026
hg191026
hg181026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581619, nsv581612, nsv581608, nsv581621, nsv581611, nsv581615
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6818n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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