A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737319



Internal ID10320955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94970480..94974279hg38UCSC Ensembl
Outerchr8:95982708..95986507hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672160
SamplesSSM031
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)esv2737319
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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