A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954141



Internal ID9711839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76357179..76357700hg38UCSC Ensembl
Outerchr18:74069134..74069655hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717388, esv2717389
Supporting Variants
SamplesSSM025
Known GenesZNF516
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)essv6954141
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