A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666095



Internal ID9732949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:70342022..70342255hg38UCSC Ensembl
Outerchr18:68009258..68009491hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717306
Supporting Variants
SamplesSSM029
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)essv6666095
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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