A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv84n27



Internal ID20132342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46172086..46332377hg38UCSC Ensembl
chr10:47543322..47703613hg19UCSC Ensembl
chr10:47013328..47173619hg18UCSC Ensembl
chr10:47013328..47173619hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38160292
hg19160292
hg18160292
hg17160292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467036, nsv467022, nsv467039, nsv467007
SamplesHGDP00759, 1780854556_A, HGDP01034, 1780862207_A
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)dgv84n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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