A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941233



Internal ID9702507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59430499..59433462hg38UCSC Ensembl
Outerchr18:57097731..57100694hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg382964
hg192964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717167
Supporting Variants
SamplesSSM022
Known GenesCCBE1
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)essv6941233
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