A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682381



Internal ID9748435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78437207..78438260hg38UCSC Ensembl
Outerchr18:76197207..76198260hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497, esv2717531
Supporting Variants
SamplesSSM033
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)essv6682381
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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