A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2644n54



Internal ID18994820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53064109..53211560hg38UCSC Ensembl
chr12:53457893..53605344hg19UCSC Ensembl
chr12:51744160..51891611hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38147452
hg19147452
hg18147452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558987, nsv558988
Samples
Known GenesCSAD, IGFBP6, ITGB7, RARG, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2644n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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