A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2646n54



Internal ID18994822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55725049..55727410hg38UCSC Ensembl
chr12:56118833..56121194hg19UCSC Ensembl
chr12:54405100..54407461hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382362
hg192362
hg182362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559006, nsv559007
Samples
Known GenesCD63
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2646n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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