A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv597n27



Internal ID20132855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12582571..12776123hg38UCSC Ensembl
chr3:12624070..12817622hg19UCSC Ensembl
chr3:12599070..12792622hg18UCSC Ensembl
chr3:12599070..12792622hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38193553
hg19193553
hg18193553
hg17193553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460432, nsv460429, nsv460433, nsv460430, nsv460431
SamplesHGDP00860, HGDP00708, HGDP00706, HGDP01019, HGDP01018
Known GenesMKRN2, RAF1, TMEM40
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)dgv597n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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