A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7783408



Internal ID14651393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217316028..217316029hg38UCSC Ensembl
Innerchr2:217316010..217316047hg38UCSC Ensembl
Outerchr2:217316009..217316048hg38UCSC Ensembl
chr2:218180751..218180752hg19UCSC Ensembl
Innerchr2:218180733..218180770hg19UCSC Ensembl
Outerchr2:218180732..218180771hg19UCSC Ensembl
chr2:217888996..217888997hg18UCSC Ensembl
Innerchr2:217889015..217888978hg18UCSC Ensembl
Outerchr2:217888977..217889016hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306418
Supporting Variants
SamplesNA18961
Known GenesDIRC3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7783408
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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