A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9620792



Internal ID13218739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6217967..6217986hg38UCSC Ensembl
Innerchr5:6217963..6217990hg38UCSC Ensembl
Outerchr5:6217944..6218009hg38UCSC Ensembl
chr5:6218080..6218099hg19UCSC Ensembl
Innerchr5:6218076..6218103hg19UCSC Ensembl
Outerchr5:6218057..6218122hg19UCSC Ensembl
chr5:6271080..6271099hg18UCSC Ensembl
Innerchr5:6271103..6271076hg18UCSC Ensembl
Outerchr5:6271057..6271122hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327717
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9620792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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