A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737382



Internal ID10321018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:103447647..103448118hg38UCSC Ensembl
Outerchr8:104459875..104460346hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976036, essv6850232, essv6931182, essv6944240, essv6698360
SamplesSSM038, SSM023, SSM029, SSM086, SSM020
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)esv2737382
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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