A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2838n54



Internal ID22770733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101711851..101723811hg38UCSC Ensembl
chr12:102105629..102117589hg19UCSC Ensembl
chr12:100629760..100641720hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811961
hg1911961
hg1811961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560029, nsv560026
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2838n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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