A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2550693



Internal ID8614251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135763753..135808787hg38UCSC Ensembl
Innerchr5:135099442..135144476hg19UCSC Ensembl
Innerchr5:135127341..135172375hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3845035
hg1945035
hg1845035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5163360
SamplesNA18507
Known Genes
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2550693
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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