A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742702



Internal ID14665247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68421076..68421077hg38UCSC Ensembl
Innerchr2:68421051..68421102hg38UCSC Ensembl
Outerchr2:68421050..68421103hg38UCSC Ensembl
chr2:68648208..68648209hg19UCSC Ensembl
Innerchr2:68648183..68648234hg19UCSC Ensembl
Outerchr2:68648182..68648235hg19UCSC Ensembl
chr2:68501712..68501713hg18UCSC Ensembl
Innerchr2:68501738..68501687hg18UCSC Ensembl
Outerchr2:68501686..68501739hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307740
Supporting Variants
SamplesNA18964
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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