A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737537



Internal ID10321173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124800988..124801700hg38UCSC Ensembl
Outerchr8:125813230..125813942hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681059, essv6723929, essv6731547, essv6803081, essv6749256, essv6755090, essv6850270, essv6873284, essv6976069, essv6912012
SamplesSSM045, SSM073, SSM058, SSM047, SSM029, SSM086, SSM033, SSM015, SSM091, SSM056
Known Genes
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)esv2737537
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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