A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2627852



Internal ID8691410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81707315..81712182hg38UCSC Ensembl
Innerchr9:84322230..84327097hg19UCSC Ensembl
Innerchr9:83512050..83516917hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg384868
hg194868
hg184868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5280233
SamplesNA18507
Known GenesLOC101927502
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)esv2627852
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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