A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712423



Internal ID9778268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23072944..23106412hg38UCSC Ensembl
Outerchr8:22930457..22963925hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3833469
hg1933469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736750, esv2736752
Supporting Variants
SamplesSSM042
Known GenesLOC254896, LOC286059, TNFRSF10C
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)essv6712423
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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