A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5325963



Internal ID8417698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:28982439..28993080hg38UCSC Ensembl
Innerchr11:29003986..29014627hg19UCSC Ensembl
Innerchr11:28960562..28971203hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg3810642
hg1910642
hg1810642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2568726
Supporting Variants
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)essv5325963
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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