A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799551



Internal ID9856591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:52698746..52698896hg38UCSC Ensembl
Outerchr8:53611306..53611456hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736998
Supporting Variants
SamplesSSM072
Known GenesRB1CC1
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)essv6799551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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