A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5375680



Internal ID8467415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5761953..5788205hg38UCSC Ensembl
Innerchr11:5783183..5809435hg19UCSC Ensembl
Innerchr11:5739759..5766011hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3826253
hg1926253
hg1826253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2507539
Supporting Variants
SamplesNA18507
Known GenesOR52N1, OR52N5
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)essv5375680
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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