A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877316



Internal ID9926380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78898386..78899016hg38UCSC Ensembl
Outerchr18:76658386..76659016hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497, esv2717606
Supporting Variants
SamplesSSM092
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)essv6877316
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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