A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv493n27



Internal ID20132751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232340180..232438423hg38UCSC Ensembl
chr2:233204890..233303133hg19UCSC Ensembl
chr2:232913134..233011377hg18UCSC Ensembl
chr2:233030395..233128638hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898244
hg1998244
hg1898244
hg1798244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460123, nsv460122
Samples1780862002_A, 1798860047_A
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)dgv493n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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