A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823542



Internal ID10224670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76692607..76692851hg38UCSC Ensembl
Outerchr11:76403651..76403895hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744794, esv2744793
Supporting Variants
SamplesSSM079
Known GenesGUCY2EP
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)essv6823542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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