A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713767



Internal ID9779478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78753912..78754158hg38UCSC Ensembl
Outerchr18:76513912..76514158hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717586, esv2717582, esv2717497
Supporting Variants
SamplesSSM042
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)essv6713767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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