A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv475n27



Internal ID20132733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130185940..130390535hg38UCSC Ensembl
chr2:130943513..131148108hg19UCSC Ensembl
chr2:130659983..130864578hg18UCSC Ensembl
chr2:130659743..130864338hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204596
hg19204596
hg18204596
hg17204596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459296, nsv459307, nsv459318
SamplesHGDP01241, HGDP01328, HGDP00716
Known GenesCCDC115, IMP4, MZT2B, PTPN18, TUBA3E
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)dgv475n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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