A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323257



Internal ID15170231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45257947..45257957hg38UCSC Ensembl
Innerchr5:45257941..45257961hg38UCSC Ensembl
Outerchr5:45257933..45257971hg38UCSC Ensembl
chr5:45258049..45258059hg19UCSC Ensembl
Innerchr5:45258043..45258063hg19UCSC Ensembl
Outerchr5:45258035..45258073hg19UCSC Ensembl
chr5:45293806..45293816hg18UCSC Ensembl
Innerchr5:45293820..45293800hg18UCSC Ensembl
Outerchr5:45293792..45293830hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924262, essv8924263, essv8924259, essv8924257, essv8924256, essv8924260, essv8924255, essv8924261, essv8924253, essv8924254
SamplesNA12751, NA18870, NA19138, NA18520, NA18516, NA18853, NA19108, NA19093, NA19116, NA19129
Known GenesHCN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323257
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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