A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716096



Internal ID10127968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1297923..1298074hg38UCSC Ensembl
Outerchr8:1246179..1246333hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38152
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736214, esv2736216
Supporting Variants
SamplesSSM043
Known GenesLOC286083
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)essv6716096
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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