A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749166



Internal ID10158539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:965366..965759hg38UCSC Ensembl
Outerchr8:915366..915759hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736101, esv2736099
Supporting Variants
SamplesSSM056
Known GenesERICH1-AS1
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)essv6749166
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