A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8924913



Internal ID14851582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74519768..74519858hg38UCSC Ensembl
Innerchr5:74519809..74519814hg38UCSC Ensembl
Outerchr5:74519724..74519902hg38UCSC Ensembl
chr5:73815593..73815683hg19UCSC Ensembl
Innerchr5:73815634..73815639hg19UCSC Ensembl
Outerchr5:73815549..73815727hg19UCSC Ensembl
chr5:73851349..73851439hg18UCSC Ensembl
Innerchr5:73851390..73851395hg18UCSC Ensembl
Outerchr5:73851305..73851483hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359799
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8924913
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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