A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694571



Internal ID13292023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1272537..1273835hg38UCSC Ensembl
Innerchr5:1272835..1273537hg38UCSC Ensembl
Outerchr5:1271537..1274835hg38UCSC Ensembl
chr5:1272652..1273950hg19UCSC Ensembl
Innerchr5:1272950..1273652hg19UCSC Ensembl
Outerchr5:1271652..1274950hg19UCSC Ensembl
chr5:1325652..1326950hg18UCSC Ensembl
Innerchr5:1326652..1325950hg18UCSC Ensembl
Outerchr5:1324652..1327950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423009
Supporting Variants
SamplesNA12878
Known GenesTERT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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