A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2834n54



Internal ID22770729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101711211..101712289hg38UCSC Ensembl
chr12:102104989..102106067hg19UCSC Ensembl
chr12:100629120..100630198hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381079
hg191079
hg181079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560009, nsv560008
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2834n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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