A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672051



Internal ID9738966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461401..19461612hg38UCSC Ensembl
Outerchr8:19318912..19319123hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736723, esv2736721
Supporting Variants
SamplesSSM031
Known GenesCSGALNACT1
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)essv6672051
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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