A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778909



Internal ID10184500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142203331..142203769hg38UCSC Ensembl
Outerchr8:143284692..143285130hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737846, esv2737845, esv2737844
Supporting Variants
SamplesSSM067
Known GenesLINC00051
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)essv6778909
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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