A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv81n27



Internal ID20132339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46261244hg38UCSC Ensembl
chr10:47543322..47632480hg19UCSC Ensembl
chr10:47013328..47102486hg18UCSC Ensembl
chr10:47013328..47102486hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3889159
hg1989159
hg1889159
hg1789159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466912, nsv466911, nsv466913
SamplesHGDP00907, HGDP00925, HGDP00029
Known GenesANTXRLP1
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)dgv81n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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