A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678648



Internal ID9746223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63591427..63591531hg38UCSC Ensembl
Outerchr18:61258661..61258765hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717204, esv2717203
Supporting Variants
SamplesSSM032
Known GenesSERPINB13
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)essv6678648
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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