A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425786



Internal ID14926057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864788..7864824hg38UCSC Ensembl
Innerchr5:7864796..7864813hg38UCSC Ensembl
Outerchr5:7864760..7864849hg38UCSC Ensembl
chr5:7864901..7864937hg19UCSC Ensembl
Innerchr5:7864909..7864926hg19UCSC Ensembl
Outerchr5:7864873..7864962hg19UCSC Ensembl
chr5:7917901..7917937hg18UCSC Ensembl
Innerchr5:7917926..7917909hg18UCSC Ensembl
Outerchr5:7917873..7917962hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676027
SamplesNA19238
Known GenesFASTKD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425786
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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