A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6848n54



Internal ID22774743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47569892..47570831hg38UCSC Ensembl
chr2:47797031..47797970hg19UCSC Ensembl
chr2:47650535..47651474hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38940
hg19940
hg18940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581761, nsv581757
Samples
Known GenesKCNK12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6848n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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