A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694839



Internal ID15015087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68964269..68966267hg38UCSC Ensembl
Innerchr5:68965267..68965269hg38UCSC Ensembl
Outerchr5:68963269..68967267hg38UCSC Ensembl
chr5:68260096..68262094hg19UCSC Ensembl
Innerchr5:68261094..68261096hg19UCSC Ensembl
Outerchr5:68259096..68263094hg19UCSC Ensembl
chr5:68295852..68297850hg18UCSC Ensembl
Innerchr5:68296852..68296850hg18UCSC Ensembl
Outerchr5:68294852..68298850hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334736
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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