A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940230



Internal ID9701132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75127461..75127636hg38UCSC Ensembl
Outerchr11:74838506..74838681hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744781
Supporting Variants
SamplesSSM022
Known Genes
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)essv6940230
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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