A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2685n54



Internal ID22770580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69896159..69896905hg38UCSC Ensembl
chr12:70289939..70290685hg19UCSC Ensembl
chr12:68576206..68576952hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38747
hg19747
hg18747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559230, nsv559231
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2685n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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