A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2334n54



Internal ID22770229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7847740..7950607hg38UCSC Ensembl
chr12:8000336..8103203hg19UCSC Ensembl
chr12:7891603..7994470hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102868
hg19102868
hg18102868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557303, nsv557300, nsv557301, nsv557292, nsv557309
SamplesHGDP00210, HGDP00456, 1780862111_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2334n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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