A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737378



Internal ID10321014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:102700826..102700961hg38UCSC Ensembl
Outerchr8:103713054..103713189hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958208
SamplesSSM026
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)esv2737378
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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