A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv614n27



Internal ID20132872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100631901..100714748hg38UCSC Ensembl
chr3:100350745..100433592hg19UCSC Ensembl
chr3:101833435..101916282hg18UCSC Ensembl
chr3:101833435..101916282hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3882848
hg1982848
hg1882848
hg1782848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460789, nsv460785, nsv460779, nsv460778, nsv460772, nsv460782, nsv460776, nsv460780, nsv460788, nsv460775, nsv460783, nsv460777, nsv460781, nsv460786, nsv460774
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
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv614n27
Frequency
Sample Size1557
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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