A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv519n27



Internal ID20132777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63154307..63248817hg38UCSC Ensembl
chr20:61785659..61880169hg19UCSC Ensembl
chr20:61256104..61350614hg18UCSC Ensembl
chr20:61256104..61350614hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3894511
hg1994511
hg1894511
hg1794511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459071, nsv459072
Samples1780854231_A, HGDP01079
Known GenesBIRC7, MIR124-3, MIR3196, NKAIN4, YTHDF1
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)dgv519n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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