A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1015n106



Internal ID22794843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94372446..94375946hg38UCSC Ensembl
chr13:95024700..95028200hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110223, nsv1141233
SamplesKWS2, KWS1
Known GenesGPC6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1015n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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