A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394873



Internal ID14895151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63264906..63264906hg38UCSC Ensembl
Innerchr18:63264905..63264907hg38UCSC Ensembl
Outerchr18:63264846..63264956hg38UCSC Ensembl
chr18:60932139..60932139hg19UCSC Ensembl
Innerchr18:60932138..60932140hg19UCSC Ensembl
Outerchr18:60932079..60932189hg19UCSC Ensembl
chr18:59083119..59083119hg18UCSC Ensembl
Innerchr18:59083120..59083118hg18UCSC Ensembl
Outerchr18:59083059..59083169hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8821090
SamplesNA19240
Known GenesBCL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394873
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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