A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2645n54



Internal ID20136069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53099603..53227927hg38UCSC Ensembl
chr12:53493387..53621711hg19UCSC Ensembl
chr12:51779654..51907978hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38128325
hg19128325
hg18128325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558990, nsv558991, nsv558993, nsv558992, nsv558995, nsv558989
SamplesNINDS_71
Known GenesCSAD, IGFBP6, ITGB7, RARG, SOAT2, ZNF740
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2645n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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