A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2684n54



Internal ID22770579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69895940..69896929hg38UCSC Ensembl
chr12:70289720..70290709hg19UCSC Ensembl
chr12:68575987..68576976hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38990
hg19990
hg18990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559228, nsv559229, nsv559227
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2684n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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