A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5385465



Internal ID8477200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107368449..107378868hg38UCSC Ensembl
Innerchr11:107239175..107249594hg19UCSC Ensembl
Innerchr11:106744385..106754804hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3810420
hg1910420
hg1810420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2519079
Supporting Variants
SamplesNA18507
Known GenesCWF19L2
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)essv5385465
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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