A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2614568



Internal ID8678127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:85758424..85839305hg38UCSC Ensembl
Innerchr9:88373339..88454220hg19UCSC Ensembl
Innerchr9:87563159..87644040hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3880882
hg1980882
hg1880882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5376135
SamplesNA18507
Known GenesLOC389765
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)esv2614568
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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