A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472991



Internal ID8536549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:29321214..29328150hg38UCSC Ensembl
Innerchr8:29178731..29185667hg19UCSC Ensembl
Innerchr8:29234650..29241586hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386937
hg196937
hg186937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5301195
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)esv2472991
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer