A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736721



Internal ID9971053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461258..19462093hg38UCSC Ensembl
Outerchr8:19318769..19319604hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866315, essv6958084, essv6672051, essv6866314, essv6975911, essv6887479, essv6944157, essv6716137, essv6964696, essv6677152, essv6791172, essv6911942, essv6939666
SamplesSSM022, SSM027, SSM043, SSM089, SSM031, SSM032, SSM029, SSM096, SSM023, SSM015, SSM026, 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)esv2736721
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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