A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694566



Internal ID14736968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1211237..1212635hg38UCSC Ensembl
Innerchr5:1211635..1212237hg38UCSC Ensembl
Outerchr5:1210237..1213635hg38UCSC Ensembl
chr5:1211352..1212750hg19UCSC Ensembl
Innerchr5:1211750..1212352hg19UCSC Ensembl
Outerchr5:1210352..1213750hg19UCSC Ensembl
chr5:1264352..1265750hg18UCSC Ensembl
Innerchr5:1265352..1264750hg18UCSC Ensembl
Outerchr5:1263352..1266750hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408990
Supporting Variants
SamplesNA19240
Known GenesSLC6A19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694566
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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