A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518600



Internal ID8582158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58383273..58391431hg38UCSC Ensembl
Innerchr5:57679100..57687258hg19UCSC Ensembl
Innerchr5:57714857..57723015hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg388159
hg198159
hg188159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5379769
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)esv2518600
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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