A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795430



Internal ID10198604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:134182056..134183786hg38UCSC Ensembl
Outerchr8:135194299..135196029hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381731
hg191731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737610
Supporting Variants
SamplesSSM071
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)essv6795430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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