A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv435n27



Internal ID20132693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54519000..54645591hg38UCSC Ensembl
chr19:55030183..55157042hg19UCSC Ensembl
chr19:59721995..59848854hg18UCSC Ensembl
chr19:59721995..59848854hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38126592
hg19126860
hg18126860
hg17126860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458797, nsv458798, nsv458795
SamplesHGDP00957, HGDP01242, HGDP00388
Known GenesKIR3DX1, LILRA1, LILRA2, LILRB1, MIR8061
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)dgv435n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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