A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv605n27



Internal ID20132863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62624950..62626338hg38UCSC Ensembl
chr3:62610625..62612013hg19UCSC Ensembl
chr3:62585665..62587053hg18UCSC Ensembl
chr3:62585665..62587053hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381389
hg191389
hg181389
hg171389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460577, nsv460578
SamplesHGDP00908, HGDP01255
Known GenesCADPS
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)dgv605n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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