A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2511005



Internal ID8227877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134923108..134930005hg38UCSC Ensembl
Innerchr5:134258798..134265695hg19UCSC Ensembl
Innerchr5:134286697..134293594hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386898
hg196898
hg186898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5326500
SamplesNA18507
Known GenesMIR4461, PCBD2
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)esv2511005
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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