A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737332



Internal ID10320968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96402774..96403242hg38UCSC Ensembl
Outerchr8:97415002..97415470hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760555, essv6752126, essv6672162, essv6856259
SamplesSSM087, SSM057, SSM061, SSM031
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)esv2737332
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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