A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737200



Internal ID10320836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76303139..76304164hg38UCSC Ensembl
Outerchr8:77215374..77216399hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760544, essv6845486, essv6734804, essv6850205, essv6801066, essv6746397, essv6861635, essv6975998, essv6958176, essv6818970, essv6952603, essv6765423, essv6964780
SamplesSSM027, SSM009, SSM088, SSM061, SSM029, SSM026, SSM086, SSM085, SSM078, SSM055, SSM025, SSM049, SSM063
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)esv2737200
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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