A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737320



Internal ID10320956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95074267..95074733hg38UCSC Ensembl
Outerchr8:96086495..96086961hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964802, essv6861651, essv6958198, essv6856255
SamplesSSM027, SSM087, SSM088, SSM026
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)esv2737320
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer