A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862311



Internal ID10258109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128916032..128916263hg38UCSC Ensembl
Outerchr11:128785927..128786158hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745243, esv2745242
Supporting Variants
SamplesSSM088
Known GenesKCNJ5
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)essv6862311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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