A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747418



Internal ID9807502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77555065..77556171hg38UCSC Ensembl
Outerchr18:75267021..75268127hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717464, esv2717388
Supporting Variants
SamplesSSM055
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)essv6747418
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