A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv494n27



Internal ID20132752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232341294..232458467hg38UCSC Ensembl
chr2:233206004..233323177hg19UCSC Ensembl
chr2:232914248..233031421hg18UCSC Ensembl
chr2:233031509..233148682hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38117174
hg19117174
hg18117174
hg17117174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460126, nsv460124, nsv460129, nsv460130, nsv460127
SamplesHGDP00977, 1780862431_A, 1782681263_A, HGDP00799, HGDP01227
Known GenesALPI, ALPP, 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)dgv494n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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