A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv618n27



Internal ID18991628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119010267..119090661hg38UCSC Ensembl
chr3:118729114..118809508hg19UCSC Ensembl
chr3:120211804..120292198hg18UCSC Ensembl
chr3:120211804..120292198hg17UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3880395
hg1980395
hg1880395
hg1780395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460832, nsv460830, nsv460831, nsv460833
SamplesHGDP00675, NINDS_99, HGDP00258, HGDP00058
Known GenesIGSF11
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)dgv618n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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