A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv419n27



Internal ID22767148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42954411..43133031hg38UCSC Ensembl
chr19:43458563..43637183hg19UCSC Ensembl
chr19:48150403..48329023hg18UCSC Ensembl
chr19:48150403..48329023hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38178621
hg19178621
hg18178621
hg17178621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458657, nsv458658, nsv458667, nsv458660, nsv458656, nsv458676
SamplesHGDP00258, HGDP01271, HGDP00205, HGDP00112, HGDP00234, HGDP00577
Known GenesPSG11, PSG2
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)dgv419n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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