A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975927



Internal ID10082135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27826546..27826825hg38UCSC Ensembl
Outerchr8:27684063..27684342hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736800, esv2736801
Supporting Variants
SamplesSSM029
Known GenesPBK
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)essv6975927
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