A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737816



Internal ID9972155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141871619..141871952hg38UCSC Ensembl
Outerchr8:142952980..142953313hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672244, essv6952658, essv6887582, essv6705718
SamplesSSM096, SSM031, SSM040, SSM025
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)esv2737816
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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