A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2338n54



Internal ID22770233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7900980..7970710hg38UCSC Ensembl
chr12:8053576..8123306hg19UCSC Ensembl
chr12:7944843..8014573hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3869731
hg1969731
hg1869731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557329, nsv557330
Samples
Known GenesSLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2338n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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