A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2614118



Internal ID8330990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1323869..1325869hg38UCSC Ensembl
Innerchr3:1365553..1367553hg19UCSC Ensembl
Innerchr3:1340553..1342553hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg382001
hg192001
hg182001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5341369
SamplesNA18507
Known GenesCNTN6
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)esv2614118
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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