A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv523n27



Internal ID20132781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63738644..63789659hg38UCSC Ensembl
chr20:62369997..62421012hg19UCSC Ensembl
chr20:61840441..61891456hg18UCSC Ensembl
chr20:61840441..61891456hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3851016
hg1951016
hg1851016
hg1751016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459084, nsv459086
SamplesNINDS_119, HGDP00655
Known GenesLIME1, SLC2A4RG, ZBTB46
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)dgv523n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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