A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800610



Internal ID9657023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19479575..19480021hg38UCSC Ensembl
Outerchr8:19337086..19337532hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736725
Supporting Variants
SamplesSSM009
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)essv6800610
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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