A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694572



Internal ID14666685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1272537..1273935hg38UCSC Ensembl
Innerchr5:1272935..1273537hg38UCSC Ensembl
Outerchr5:1271537..1274935hg38UCSC Ensembl
chr5:1272652..1274050hg19UCSC Ensembl
Innerchr5:1273050..1273652hg19UCSC Ensembl
Outerchr5:1271652..1275050hg19UCSC Ensembl
chr5:1325652..1327050hg18UCSC Ensembl
Innerchr5:1326652..1326050hg18UCSC Ensembl
Outerchr5:1324652..1328050hg18UCSC 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 Variantsesv3444086
Supporting Variants
SamplesNA19238
Known GenesTERT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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