A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518446



Internal ID8235319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73530574..73550875hg38UCSC Ensembl
Innerchr14:73997278..74017579hg19UCSC Ensembl
Innerchr14:73067031..73087332hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3820302
hg1920302
hg1820302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5165462
SamplesNA18507
Known GenesACOT1, HEATR4
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)esv2518446
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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