A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741200



Internal ID15088206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74936757..74936759hg38UCSC Ensembl
Innerchr5:74936756..74936760hg38UCSC Ensembl
Outerchr5:74936707..74936809hg38UCSC Ensembl
chr5:74232582..74232584hg19UCSC Ensembl
Innerchr5:74232581..74232585hg19UCSC Ensembl
Outerchr5:74232532..74232634hg19UCSC Ensembl
chr5:74268338..74268340hg18UCSC Ensembl
Innerchr5:74268341..74268337hg18UCSC Ensembl
Outerchr5:74268288..74268390hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412544
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741200
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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