A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791800



Internal ID10195454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:127874778..127874915hg38UCSC Ensembl
Outerchr11:127744673..127744810hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745225, esv2745226
Supporting Variants
SamplesSSM070
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)essv6791800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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