A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv179n27



Internal ID22766908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7818125..7946706hg38UCSC Ensembl
chr12:7970721..8099302hg19UCSC Ensembl
chr12:7861988..7990569hg18UCSC Ensembl
chr12:7861988..7990569hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38128582
hg19128582
hg18128582
hg17128582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469010, nsv468997, nsv468999, nsv469000
SamplesHGDP00813, HGDP01295, HGDP00929, HGDP01301
Known GenesSLC2A14, SLC2A3
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)dgv179n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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