A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737804



Internal ID9972143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141620124..141620680hg38UCSC Ensembl
Outerchr8:142630224..142630780hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970171, essv6970170, essv6939770, essv6923740, essv6944289
SamplesSSM023, SSM028, SSM018, SSM022
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)esv2737804
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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