A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717205



Internal ID9951494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63641023..63662901hg38UCSC Ensembl
Outerchr18:61308257..61330135hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3821879
hg1921879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713737, essv6756159, essv6674469, essv6744632
SamplesSSM042, SSM058, SSM031, SSM007
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)esv2717205
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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