A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717461



Internal ID9951752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77549170..77549440hg38UCSC Ensembl
Outerchr18:75261126..75261396hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682374, essv6824461, essv6828539, essv6674512, essv6688946
SamplesSSM079, SSM035, SSM031, SSM033, SSM080
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)esv2717461
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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