A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745122



Internal ID9979406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118096857..118097050hg38UCSC Ensembl
Outerchr11:117967572..117967765hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959157, essv6673060, essv6944862, essv6857101, essv6732061, essv6862302, essv6823567, essv6887958, essv6908793, essv6900592, essv6882278, essv6724435, essv6779396
SamplesSSM100, SSM045, SSM079, SSM087, SSM088, SSM023, SSM047, SSM096, SSM026, SSM094, SSM031, SSM067, SSM014
Known GenesTMPRSS4
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)esv2745122
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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