A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736098



Internal ID10319734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:965167..965475hg38UCSC Ensembl
Outerchr8:915167..915475hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814810, essv6677093, essv6727658, essv6694779
SamplesSSM046, SSM032, SSM037, SSM077
Known GenesERICH1-AS1
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)esv2736098
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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