A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717598



Internal ID9951889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78841185..78841334hg38UCSC Ensembl
Outerchr18:76601185..76601334hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925169, essv6921124, essv6932794
SamplesSSM018, SSM017, SSM020
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)esv2717598
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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