A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737441



Internal ID10147179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58162655..58163619hg38UCSC Ensembl
Outerchr8:59075214..59076178hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737041
Supporting Variants
SamplesSSM050
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)essv6737441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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