A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2645198



Internal ID8708756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49938271..49940894hg38UCSC Ensembl
Innerchr13:50512407..50515030hg19UCSC Ensembl
Innerchr13:49410408..49413031hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382624
hg192624
hg182624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5242911
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)esv2645198
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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