A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864524



Internal ID13228850
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 StatusS
Merged Variantsesv3333487
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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