A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv997n106



Internal ID22794825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72382547..72382952hg38UCSC Ensembl
chr13:72956685..72957090hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115162, nsv1111657
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv997n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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