A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv635n27



Internal ID18991645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197183211..197617305hg38UCSC Ensembl
chr3:196910082..197344176hg19UCSC Ensembl
chr3:198394479..198828573hg18UCSC Ensembl
chr3:198398392..198832486hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38434095
hg19434095
hg18434095
hg17434095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461134, nsv461135
SamplesHGDP00574, HGDP00572
Known GenesBDH1, DLG1, DLG1-AS1, LOC220729, MIR4797
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)dgv635n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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