A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv643n27



Internal ID20132901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8083447..8118210hg38UCSC Ensembl
chr4:8085174..8119937hg19UCSC Ensembl
chr4:8136074..8170837hg18UCSC Ensembl
chr4:8203245..8238008hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3834764
hg1934764
hg1834764
hg1734764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461214, nsv461215
SamplesHGDP00774, NINDS_50
Known GenesABLIM2
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)dgv643n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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