A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2254n54



Internal ID22770149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:753823..764839hg38UCSC Ensembl
chr12:862989..874005hg19UCSC Ensembl
chr12:733250..744266hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811017
hg1911017
hg1811017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556902, nsv556903, nsv556904
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2254n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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