A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823033



Internal ID10224212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81334279..81334466hg38UCSC Ensembl
Outerchr8:82246514..82246701hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737224, esv2737225
Supporting Variants
SamplesSSM079
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)essv6823033
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer