A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv996n106



Internal ID22794824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72318962..72324362hg38UCSC Ensembl
chr13:72893100..72898500hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111655, nsv1128687
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv996n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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