A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv118n27



Internal ID22766847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89180930..89215450hg38UCSC Ensembl
chr10:90940687..90975207hg19UCSC Ensembl
chr10:90930667..90965187hg18UCSC Ensembl
chr10:90930667..90965187hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3834521
hg1934521
hg1834521
hg1734521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467423, nsv467422
SamplesHGDP01399, HGDP00407
Known GenesCH25H, LIPA
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)dgv118n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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