A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736788



Internal ID10320424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26213075..26213748hg38UCSC Ensembl
Outerchr8:26070591..26071264hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830735, essv6975925, essv6795330, essv6933719, essv6856164, essv6904320, essv6694850, essv6723873, essv6841832, essv6771433, essv6948415, essv6923657, essv6731481, essv6952566, essv6766253, essv6944169, essv6827034, essv6716147, essv6791184, essv6799526, essv6970071, essv6822985, essv6672064, essv6964710, essv6684525, essv6939671, essv6931134, essv6919511, essv6691040, essv6701744, essv6712428, essv6782858, essv6778820
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM079, SSM065, SSM087, SSM039, SSM013, SSM042, SSM023, SSM028, SSM084, SSM047, SSM018, SSM029, SSM017, SSM003, SSM031, SSM067, SSM068, SSM081, SSM072, SSM020, SSM080, SSM037, SSM022, SSM070, SSM025, SSM034, SSM043
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)esv2736788
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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