A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv192n27



Internal ID20132450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31048783..31253973hg38UCSC Ensembl
chr12:31201717..31406907hg19UCSC Ensembl
chr12:31092984..31298174hg18UCSC Ensembl
chr12:31092984..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38205191
hg19205191
hg18205191
hg17205191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469198, nsv469199, nsv469195, nsv469196, nsv469197, nsv469200
SamplesHGDP00450, 1782681093_A, HGDP00088, 1782681287_A, HGDP01386, HGDP00105
Known GenesDDX11, DDX11-AS1
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)dgv192n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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