A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756159



Internal ID9817392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63641023..63658841hg38UCSC Ensembl
Outerchr18:61308257..61326075hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3817819
hg1917819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717205
Supporting Variants
SamplesSSM058
Known GenesSERPINB3, SERPINB4
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)essv6756159
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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