A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827140



Internal ID9881223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141738078..141738278hg38UCSC Ensembl
Outerchr8:142819389..142819639hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38201
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737756, esv2737811
Supporting Variants
SamplesSSM080
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)essv6827140
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