A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv83n27



Internal ID20132341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46295928hg38UCSC Ensembl
chr10:47543322..47667164hg19UCSC Ensembl
chr10:47013328..47137170hg18UCSC Ensembl
chr10:47013328..47137170hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38123843
hg19123843
hg18123843
hg17123843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466921, nsv466934, nsv466936, nsv466923, nsv466926, nsv466937, nsv466929, nsv466933, nsv466918, nsv466930, nsv466928, nsv466935, nsv466919, nsv466931
SamplesHGDP00621, HGDP00815, HGDP01202, HGDP01098, HGDP01167, HGDP00926, HGDP00913, HGDP00651, HGDP00928, HGDP00727, HGDP01405, HGDP01029, HGDP01286, HGDP00822
Known GenesANTXRL, ANTXRLP1
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)dgv83n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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