A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5244611



Internal ID8336346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125385345..125391065hg38UCSC Ensembl
Innerchr6:125706491..125712211hg19UCSC Ensembl
Innerchr6:125748190..125753910hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg385721
hg195721
hg185721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2462171
Supporting Variants
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)essv5244611
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