A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv780n27



Internal ID22767509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:102992625..103769899hg38UCSC Ensembl
chr6:103440500..104217774hg19UCSC Ensembl
chr6:103547193..104324467hg18UCSC Ensembl
chr6:103547193..104324467hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38777275
hg19777275
hg18777275
hg17777275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464000, nsv464002
SamplesHGDP00731, HGDP00683
Known Genes
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)dgv780n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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