A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv262n27



Internal ID20132520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96219367..96222332hg38UCSC Ensembl
chr14:96685704..96688669hg19UCSC Ensembl
chr14:95755457..95758422hg18UCSC Ensembl
chr14:95755457..95758422hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382966
hg192966
hg182966
hg172966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456412, nsv456413
SamplesHGDP00694, HGDP00930
Known GenesBDKRB2
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)dgv262n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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