A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977030



Internal ID9734457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949872..112188492hg38UCSC Ensembl
Outerchr11:111820596..112059215hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38238621
hg19238620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745077
Supporting Variants
SamplesSSM029
Known GenesBCO2, C11orf57, DIXDC1, DLAT, IL18, PIH1D2, SDHD, TEX12, TIMM8B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6977030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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