A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525295



Internal ID8588853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114599818..114640956hg38UCSC Ensembl
Innerchr11:114470540..114511678hg19UCSC Ensembl
Innerchr11:113975750..114016888hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3841139
hg1941139
hg1841139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5332527
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)esv2525295
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