A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737567



Internal ID10321203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127598836..127599334hg38UCSC Ensembl
Outerchr8:128611081..128611579hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830909, essv6958249, essv6830792, essv6766987, essv6752143, essv6866424, essv6856296, essv6743625
SamplesSSM008, SSM087, SSM057, SSM026, SSM089, SSM081, SSM053, SSM010
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)esv2737567
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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