A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3451n54



Internal ID18995627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113810996..113820661hg38UCSC Ensembl
chr13:114513969..114523634hg19UCSC Ensembl
chr13:113590309..113599974hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg389666
hg199666
hg189666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv563395, nsv563393, nsv563394
Samples
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3451n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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