A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717603



Internal ID9951894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78866248..78866869hg38UCSC Ensembl
Outerchr18:76626248..76626869hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692909, essv6804114, essv6858512, essv6729136, essv6744597, essv6692314, essv6812898, essv6744865, essv6763899, essv6909661, essv6921125, essv6967194, essv6925171, essv6885639, essv6678683, essv6820665, essv6960726, essv6665389, essv6741771, essv6735714, essv6852550, essv6779755, essv6846579, essv6769152, essv6753177, essv6747425, essv6674536, essv6874294, essv6877315, essv6807004
SamplesSSM036, SSM008, SSM027, SSM046, SSM064, SSM087, SSM009, SSM073, SSM074, SSM057, SSM092, SSM018, SSM062, SSM026, SSM017, SSM032, SSM031, SSM014, SSM086, SSM085, SSM007, SSM078, SSM053, SSM005, SSM091, SSM055, SSM095, SSM004, SSM052, SSM049
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)esv2717603
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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