A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6850n54



Internal ID22774745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47569996..47570898hg38UCSC Ensembl
chr2:47797135..47798037hg19UCSC Ensembl
chr2:47650639..47651541hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38903
hg19903
hg18903
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581762, nsv581765, nsv581760
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6850n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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