A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv478n27



Internal ID20132736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158795222..159096954hg38UCSC Ensembl
chr2:159651734..159953466hg19UCSC Ensembl
chr2:159359980..159661712hg18UCSC Ensembl
chr2:159477241..159778973hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38301733
hg19301733
hg18301733
hg17301733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459907, nsv459896
SamplesHGDP01365, 1780862197_A
Known GenesDAPL1, TANC1
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)dgv478n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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