A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv431n27



Internal ID22767160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53429042..53519471hg38UCSC Ensembl
chr19:53932295..54022725hg19UCSC Ensembl
chr19:58624107..58714537hg18UCSC Ensembl
chr19:58624107..58714537hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3890430
hg1990431
hg1890431
hg1790431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458778, nsv458771, nsv458770, nsv458769, nsv458775, nsv458772, nsv458776, nsv458777
SamplesHGDP00699, HGDP01163, 1780854540_A, HGDP00674, HGDP01367, HGDP00783, 1780854480_A, HGDP00711
Known GenesTPM3P9, ZNF761, ZNF813
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)dgv431n27
Frequency
Sample Size1557
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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