A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328286



Internal ID15175271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117427381..117427400hg38UCSC Ensembl
Innerchr5:117427377..117427404hg38UCSC Ensembl
Outerchr5:117427358..117427423hg38UCSC Ensembl
chr5:116763077..116763096hg19UCSC Ensembl
Innerchr5:116763073..116763100hg19UCSC Ensembl
Outerchr5:116763054..116763119hg19UCSC Ensembl
chr5:116790976..116790995hg18UCSC Ensembl
Innerchr5:116790999..116790972hg18UCSC Ensembl
Outerchr5:116790953..116791018hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678929
SamplesNA19240
Known GenesLINC00992
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328286
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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