A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745237



Internal ID9979521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128478323..128478410hg38UCSC Ensembl
Outerchr11:128348218..128348305hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673074
SamplesSSM031
Known GenesETS1
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)esv2745237
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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