A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2640694



Internal ID8704252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:68133549..68138501hg38UCSC Ensembl
Innerchr15:68425887..68430839hg19UCSC Ensembl
Innerchr15:66212941..66217893hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg384953
hg194953
hg184953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5296069
SamplesNA18507
Known GenesPIAS1
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)esv2640694
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