A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850312



Internal ID9902076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335640..141335714hg38UCSC Ensembl
Outerchr8:142345739..142345813hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737778, esv2737756, esv2737771
Supporting Variants
SamplesSSM086
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)essv6850312
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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