A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv63n27



Internal ID22766792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:2644284..3091456hg38UCSC Ensembl
chr10:2686476..3133648hg19UCSC Ensembl
chr10:2676476..3123648hg18UCSC Ensembl
chr10:2676476..3123648hg17UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38447173
hg19447173
hg18447173
hg17447173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466703, nsv466701, nsv466702, nsv466704
SamplesHGDP00460, HGDP00938, HGDP00632, HGDP00940
Known GenesPFKP
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)dgv63n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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