A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472n27



Internal ID20132730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110072078..110224953hg38UCSC Ensembl
chr2:110829655..110982530hg19UCSC Ensembl
chr2:110186944..110339819hg18UCSC Ensembl
chr2:110187030..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38152876
hg19152876
hg18152876
hg17152876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458774, nsv458796, nsv458829
SamplesHGDP01013, HGDP01191, 1782681092_A
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
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)dgv472n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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