A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304390



Internal ID15151338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74616989..74616990hg38UCSC Ensembl
Innerchr5:74616847..74617132hg38UCSC Ensembl
Outerchr5:74616846..74617133hg38UCSC Ensembl
chr5:73912814..73912815hg19UCSC Ensembl
Innerchr5:73912672..73912957hg19UCSC Ensembl
Outerchr5:73912671..73912958hg19UCSC Ensembl
chr5:73948570..73948571hg18UCSC Ensembl
Innerchr5:73948713..73948428hg18UCSC Ensembl
Outerchr5:73948427..73948714hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744010
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304390
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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