A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv116n27



Internal ID20132374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86653555..86682683hg38UCSC Ensembl
chr10:88413312..88442440hg19UCSC Ensembl
chr10:88403292..88432420hg18UCSC Ensembl
chr10:88403292..88432420hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3829129
hg1929129
hg1829129
hg1729129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467412, nsv467413
SamplesHGDP00619, HGDP00546
Known GenesLDB3, OPN4
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)dgv116n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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