A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420263



Internal ID15267221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864818..7864832hg38UCSC Ensembl
Innerchr5:7864816..7864832hg38UCSC Ensembl
Outerchr5:7864802..7864848hg38UCSC Ensembl
chr5:7864931..7864945hg19UCSC Ensembl
Innerchr5:7864929..7864945hg19UCSC Ensembl
Outerchr5:7864915..7864961hg19UCSC Ensembl
chr5:7917931..7917945hg18UCSC Ensembl
Innerchr5:7917945..7917929hg18UCSC Ensembl
Outerchr5:7917915..7917961hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923229, essv8923222, essv8923228, essv8923230, essv8923223, essv8923221, essv8923220, essv8923227, essv8923231
SamplesNA18510, NA18519, NA18516, NA18871, NA18499, NA18856, NA19099, NA19257, NA19093
Known GenesFASTKD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420263
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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