A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv267n27



Internal ID20132525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105149311..105219528hg38UCSC Ensembl
chr14:105615648..105685865hg19UCSC Ensembl
chr14:104686693..104756910hg18UCSC Ensembl
chr14:104686693..104756910hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3870218
hg1970218
hg1870218
hg1770218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456466, nsv456467
SamplesHGDP00679, HGDP00417
Known GenesBRF1, JAG2, MIR6765, NUDT14
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)dgv267n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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