A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753175



Internal ID9814407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78855850..78856102hg38UCSC Ensembl
Outerchr18:76615850..76616102hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717602, esv2717497
Supporting Variants
SamplesSSM057
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)essv6753175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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