A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701737



Internal ID9768813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23165627..23166018hg38UCSC Ensembl
Outerchr8:23023140..23023531hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736755, esv2736750
Supporting Variants
SamplesSSM039
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)essv6701737
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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