A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333487



Internal ID15180474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148766124..148766124hg38UCSC Ensembl
Innerchr5:148766122..148766126hg38UCSC Ensembl
Outerchr5:148766122..148766126hg38UCSC Ensembl
chr5:148145687..148145687hg19UCSC Ensembl
Innerchr5:148145685..148145689hg19UCSC Ensembl
Outerchr5:148145685..148145689hg19UCSC Ensembl
chr5:148125880..148125880hg18UCSC Ensembl
Innerchr5:148125882..148125878hg18UCSC Ensembl
Outerchr5:148125878..148125882hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864523, essv7864524
SamplesNA11992, NA18961
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333487
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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