A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv736n27



Internal ID20132994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:253861..394293hg38UCSC Ensembl
chr6:253861..394293hg19UCSC Ensembl
chr6:198861..339293hg18UCSC Ensembl
chr6:198861..339293hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38140433
hg19140433
hg18140433
hg17140433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462602, nsv462604, nsv462603, nsv462601
SamplesHGDP01288, 1780854568_A, HGDP00701, HGDP00330
Known GenesDUSP22, IRF4
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)dgv736n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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