A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3243n54



Internal ID22771138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71551509..71666431hg38UCSC Ensembl
chr13:72125641..72240563hg19UCSC Ensembl
chr13:71023642..71138564hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38114923
hg19114923
hg18114923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv562275, nsv562276, nsv562273, nsv562274, nsv562272, nsv562271
SamplesNINDS_189
Known GenesDACH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3243n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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