A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496250



Internal ID8559808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25329343..25519260hg38UCSC Ensembl
Innerchr22:25725310..25915227hg19UCSC Ensembl
Innerchr22:24055310..24245227hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38189918
hg19189918
hg18189918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5293548
SamplesNA18507
Known GenesCRYBB2P1, LRP5L, MIR6817
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)esv2496250
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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