A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3071n54



Internal ID20136495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19700704..19868739hg38UCSC Ensembl
chr13:20274844..20442879hg19UCSC Ensembl
chr13:19172844..19340879hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38168036
hg19168036
hg18168036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561212, nsv561208, nsv561210, nsv561211
Samples1780862415_A
Known GenesPSPC1, ZMYM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3071n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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