A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8517n54



Internal ID22776412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119010267..119098548hg38UCSC Ensembl
chr3:118729114..118817395hg19UCSC Ensembl
chr3:120211804..120300085hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3888282
hg1988282
hg1888282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591354, nsv591355, nsv591357, nsv591358, nsv591353, nsv591352, nsv591360, nsv591356
SamplesHGDP00258, HGDP00675, HGDP00058, NINDS_99
Known GenesIGSF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8517n54
Frequency
Sample Size17421
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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