A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757861



Internal ID10165577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:103370622..103371081hg38UCSC Ensembl
Outerchr8:104382850..104383309hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737381
Supporting Variants
SamplesSSM059
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)essv6757861
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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