A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2513n54



Internal ID22770408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33928192..34099935hg38UCSC Ensembl
chr12:34081127..34252870hg19UCSC Ensembl
chr12:33972394..34144137hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38171744
hg19171744
hg18171744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558298, nsv558299
Samples
Known GenesALG10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2513n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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