A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8479n54



Internal ID22776374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100631901..100714748hg38UCSC Ensembl
chr3:100350745..100433592hg19UCSC Ensembl
chr3:101833435..101916282hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3882848
hg1982848
hg1882848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591165, nsv591168, nsv591169, nsv591163, nsv591166, nsv591162
SamplesHGDP01062, 1780862074_A, NINDS_82, HGDP00631, NINDS_70, 1780862246_A, 1780862196_A, NINDS_253, HGDP01063, HGDP00099, HGDP01066, 1780862559_A, HGDP01359, NINDS_69, HGDP00669
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8479n54
Frequency
Sample Size17421
Observed Gain53
Observed Loss0
Observed Complex0
Frequencyn/a


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