A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2651401



Internal ID8714959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34221239..34278581hg38UCSC Ensembl
Innerchr5:34221344..34278686hg19UCSC Ensembl
Innerchr5:34257101..34314443hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3857343
hg1957343
hg1857343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5217917
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)esv2651401
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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