A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423010



Internal ID15269968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60282285..60282299hg38UCSC Ensembl
Innerchr8:60282283..60282299hg38UCSC Ensembl
Outerchr8:60282271..60282313hg38UCSC Ensembl
chr8:61194844..61194858hg19UCSC Ensembl
Innerchr8:61194842..61194858hg19UCSC Ensembl
Outerchr8:61194830..61194872hg19UCSC Ensembl
chr8:61357398..61357412hg18UCSC Ensembl
Innerchr8:61357412..61357396hg18UCSC Ensembl
Outerchr8:61357384..61357426hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677138
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423010
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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