A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7817742



Internal ID13619830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501159..45501160hg38UCSC Ensembl
Innerchr3:45501142..45501177hg38UCSC Ensembl
Outerchr3:45501141..45501178hg38UCSC Ensembl
chr3:45542651..45542652hg19UCSC Ensembl
Innerchr3:45542634..45542669hg19UCSC Ensembl
Outerchr3:45542633..45542670hg19UCSC Ensembl
chr3:45517655..45517656hg18UCSC Ensembl
Innerchr3:45517673..45517638hg18UCSC Ensembl
Outerchr3:45517637..45517674hg18UCSC Ensembl
Cytoband3p21.31
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 Variantsesv3306716
Supporting Variants
SamplesNA12874
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7817742
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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