A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv82n27



Internal ID20132340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46281263hg38UCSC Ensembl
chr10:47543322..47652499hg19UCSC Ensembl
chr10:47013328..47122505hg18UCSC Ensembl
chr10:47013328..47122505hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
hg17109178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466932, nsv466925, nsv466922, nsv466915, nsv466914, nsv466920, nsv466917, nsv466924
SamplesHGDP00479, HGDP00910, 1780862077_A, HGDP01187, HGDP00473, 1780862109_A, HGDP00472, HGDP00931
Known GenesANTXRLP1
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)dgv82n27
Frequency
Sample Size1557
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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