A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717606



Internal ID9951897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78898177..78899123hg38UCSC Ensembl
Outerchr18:76658177..76659123hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877316, essv6858513, essv6902086, essv6779766, essv6882934, essv6810020, essv6925172, essv6780325, essv6945942, essv6713768, essv6807005, essv6954165, essv6852552, essv6921126, essv6674538, essv6946007, essv6738480, essv6960728, essv6770931
SamplesSSM008, SSM075, SSM087, SSM050, SSM074, SSM042, SSM023, SSM092, SSM018, SSM026, SSM017, SSM094, SSM003, SSM031, SSM067, SSM001, SSM086, SSM025, SSM012
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)esv2717606
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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