A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949969



Internal ID10054335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75165645..75166027hg38UCSC Ensembl
Outerchr18:72877600..72877982hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717371
Supporting Variants
SamplesSSM024
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)essv6949969
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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