A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732982



Internal ID9796119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69875904..69889711hg38UCSC Ensembl
Outerchr18:67543140..67556947hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3813808
hg1913808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717304
Supporting Variants
SamplesSSM047
Known GenesCD226
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)essv6732982
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