A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6819n54



Internal ID22774714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42047375..42048679hg38UCSC Ensembl
chr2:42274515..42275819hg19UCSC Ensembl
chr2:42128019..42129323hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381305
hg191305
hg181305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581610, nsv581625, nsv581609, nsv581622, nsv581618, nsv581617, nsv581613, nsv581623
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6819n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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