A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787078



Internal ID9846923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31713755..31714069hg38UCSC Ensembl
Outerchr8:31571271..31571585hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736844
Supporting Variants
SamplesSSM069
Known GenesNRG1
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)essv6787078
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