A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866332



Internal ID10263180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34825583..34825683hg38UCSC Ensembl
Outerchr8:34683101..34683201hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736871, esv2736870
Supporting Variants
SamplesSSM089
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)essv6866332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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