A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv756n27



Internal ID22767485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65405761..65522799hg38UCSC Ensembl
chr6:66115654..66232692hg19UCSC Ensembl
chr6:66172375..66289413hg18UCSC Ensembl
chr6:66172375..66289413hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38117039
hg19117039
hg18117039
hg17117039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462985, nsv462986
Samples1780862042_A, HGDP00146
Known GenesEYS
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)dgv756n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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