A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941258



Internal ID9702540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78262203..78262346hg38UCSC Ensembl
Outerchr18:76022203..76022346hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717501, esv2717502, esv2717497, esv2717503
Supporting Variants
SamplesSSM022
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)essv6941258
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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