A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736697



Internal ID10320333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875341..17875880hg38UCSC Ensembl
Outerchr8:17732850..17733389hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766154, essv6856150, essv6755018, essv6850126, essv6723861, essv6808870, essv6737415, essv6958080, essv6861571, essv6908214, essv6672046
SamplesSSM008, SSM075, SSM045, SSM087, SSM050, SSM088, SSM058, SSM026, SSM031, SSM014, SSM086
Known GenesFGL1
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)esv2736697
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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