A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717486



Internal ID9951777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77969437..77970468hg38UCSC Ensembl
Outerchr18:75681393..75682424hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv470e201
Supporting Variantsessv6905688, essv6941257, essv6770708, essv6913475, essv6937095, essv6779676, essv6909653, essv6816163, essv6801136, essv6828541, essv6932782, essv6967176, essv6769147, essv6921112, essv6666126, essv6804108, essv6732994, essv6696466, essv6852533, essv6868175, essv6692303, essv6949981, essv6945927, essv6796917
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM064, SSM013, SSM073, SSM023, SSM021, SSM047, SSM029, SSM089, SSM017, SSM001, SSM014, SSM086, SSM072, SSM020, SSM015, SSM080, SSM037, SSM077, SSM022
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)esv2717486
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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