A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv465n27



Internal ID22767194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:77744657..77812540hg38UCSC Ensembl
chr2:77971783..78039666hg19UCSC Ensembl
chr2:77825291..77893174hg18UCSC Ensembl
chr2:77883438..77951321hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3867884
hg1967884
hg1867884
hg1767884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458352, nsv458341
SamplesHGDP00491, HGDP00544
Known Genes
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)dgv465n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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