A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755345



Internal ID14850425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74519784..74519785hg38UCSC Ensembl
Innerchr5:74519697..74519872hg38UCSC Ensembl
Outerchr5:74519696..74519873hg38UCSC Ensembl
chr5:73815609..73815610hg19UCSC Ensembl
Innerchr5:73815522..73815697hg19UCSC Ensembl
Outerchr5:73815521..73815698hg19UCSC Ensembl
chr5:73851365..73851366hg18UCSC Ensembl
Innerchr5:73851453..73851278hg18UCSC Ensembl
Outerchr5:73851277..73851454hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303370
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755345
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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