A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674469



Internal ID9742452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63645211..63662930hg38UCSC Ensembl
Outerchr18:61312445..61330164hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3817720
hg1917720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717205
Supporting Variants
SamplesSSM031
Known GenesSERPINB3
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)essv6674469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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