A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2599144



Internal ID8662702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19932563..19935133hg38UCSC Ensembl
Innerchr14:20400722..20403292hg19UCSC Ensembl
Innerchr14:19470562..19473132hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382571
hg192571
hg182571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5323389
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)esv2599144
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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