A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411086



Internal ID15258046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35682346..35682376hg38UCSC Ensembl
Innerchr5:35682353..35682367hg38UCSC Ensembl
Outerchr5:35682323..35682399hg38UCSC Ensembl
chr5:35682448..35682478hg19UCSC Ensembl
Innerchr5:35682455..35682469hg19UCSC Ensembl
Outerchr5:35682425..35682501hg19UCSC Ensembl
chr5:35718205..35718235hg18UCSC Ensembl
Innerchr5:35718226..35718212hg18UCSC Ensembl
Outerchr5:35718182..35718258hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924022, essv8924023, essv8924019, essv8924018, essv8924021, essv8924020
SamplesNA18508, NA18510, NA19138, NA19257, NA18523, NA19102
Known GenesSPEF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411086
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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