A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2596n54



Internal ID22770491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42621552..42633809hg38UCSC Ensembl
chr12:43015354..43027611hg19UCSC Ensembl
chr12:41301621..41313878hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812258
hg1912258
hg1812258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558703, nsv558702, nsv558706, nsv558707, nsv558709, nsv558708, nsv558704
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2596n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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