A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2640042



Internal ID8356914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1160833..1166204hg38UCSC Ensembl
Innerchr19:1160832..1166203hg19UCSC Ensembl
Innerchr19:1111832..1117203hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385372
hg195372
hg185372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5342423
SamplesNA18507
Known GenesSBNO2
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)esv2640042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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