A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927381



Internal ID10036726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37494267..37494809hg38UCSC Ensembl
Outerchr8:37351785..37352327hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736886
Supporting Variants
SamplesSSM019
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)essv6927381
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