A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737757



Internal ID9972096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140488799..140489236hg38UCSC Ensembl
Outerchr8:141498898..141499335hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734836, essv6707909, essv6948504, essv6952653, essv6934451
SamplesSSM024, SSM003, SSM006, SSM025, SSM049
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)esv2737757
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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