A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737568



Internal ID10321204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127599036..127599161hg38UCSC Ensembl
Outerchr8:128611281..128611406hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958249, essv6830792, essv6866424, essv6856296
SamplesSSM087, SSM026, SSM089, SSM081
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)esv2737568
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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