A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv89n27



Internal ID20132347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46226691..46297471hg38UCSC Ensembl
chr10:47597927..47668707hg19UCSC Ensembl
chr10:47067933..47138713hg18UCSC Ensembl
chr10:47067933..47138713hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3870781
hg1970781
hg1870781
hg1770781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467181, nsv467185
SamplesHGDP00574, HGDP01195
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)dgv89n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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