A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736723



Internal ID9971055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461391..19461617hg38UCSC Ensembl
Outerchr8:19318902..19319128hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939666, essv6866314, essv6672051, essv6887479, essv6791172, essv6944157, essv6677152
SamplesSSM023, SSM096, SSM089, SSM032, SSM031, SSM022, SSM070
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)esv2736723
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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