A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775649



Internal ID9834880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134341783..134342250hg38UCSC Ensembl
Outerchr11:134211677..134212144hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745325, esv2745327
Supporting Variants
SamplesSSM066
Known GenesGLB1L2
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)essv6775649
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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