A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2633n54



Internal ID22770528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52449756..52470991hg38UCSC Ensembl
chr12:52843540..52864775hg19UCSC Ensembl
chr12:51129807..51151042hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3821236
hg1921236
hg1821236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558929, nsv558932, nsv558930, nsv558931
Samples
Known GenesKRT6B, KRT6C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2633n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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