A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv412n27



Internal ID18991422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42870449..42964508hg38UCSC Ensembl
chr19:43374601..43468660hg19UCSC Ensembl
chr19:48066441..48160500hg18UCSC Ensembl
chr19:48066441..48160500hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3894060
hg1994060
hg1894060
hg1794060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458594, nsv458597, nsv458595
SamplesHGDP01348, HGDP00099, HGDP00062
Known GenesPSG1, PSG6, PSG7
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)dgv412n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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