A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717488



Internal ID9951779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77969712..77969861hg38UCSC Ensembl
Outerchr18:75681668..75681817hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816163, essv6666126
SamplesSSM029, SSM077
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)esv2717488
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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