A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717558



Internal ID9951849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78613764..78614430hg38UCSC Ensembl
Outerchr18:76373764..76374430hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476e201
Supporting Variantsessv6937103, essv6812876, essv6784466, essv6913481, essv6967184, essv6832119, essv6772941, essv6804111, essv6835693, essv6960720, essv6874291, essv6925166, essv6717673, essv6877311, essv6820662, essv6874290, essv6843342, essv6840553, essv6921118, essv6971735, essv6750260
SamplesSSM027, SSM065, SSM009, SSM073, SSM028, SSM092, SSM084, SSM021, SSM018, SSM026, SSM017, SSM068, SSM081, SSM082, SSM015, SSM078, SSM010, SSM091, SSM043, SSM056
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)esv2717558
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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