A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850275



Internal ID9902043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125669151..125669440hg38UCSC Ensembl
Outerchr8:126681395..126681684hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737553, esv2737545
Supporting Variants
SamplesSSM086
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)essv6850275
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