A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334527



Internal ID15181516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63485139..63487037hg38UCSC Ensembl
Innerchr18:63486037..63486139hg38UCSC Ensembl
Outerchr18:63484139..63488037hg38UCSC Ensembl
chr18:61152372..61154270hg19UCSC Ensembl
Innerchr18:61153270..61153372hg19UCSC Ensembl
Outerchr18:61151372..61155270hg19UCSC Ensembl
chr18:59303352..59305250hg18UCSC Ensembl
Innerchr18:59304352..59304250hg18UCSC Ensembl
Outerchr18:59302352..59306250hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691267
SamplesNA19239
Known GenesSERPINB5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334527
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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