A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2634n54



Internal ID20136058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52690389..52693665hg38UCSC Ensembl
chr12:53084173..53087449hg19UCSC Ensembl
chr12:51370440..51373716hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383277
hg193277
hg183277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558934, nsv558935
Samples
Known GenesKRT77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2634n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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