A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379237



Internal ID14879509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:75296192..75296211hg38UCSC Ensembl
Innerchr10:75296188..75296215hg38UCSC Ensembl
Outerchr10:75296169..75296234hg38UCSC Ensembl
chr10:77055950..77055969hg19UCSC Ensembl
Innerchr10:77055946..77055973hg19UCSC Ensembl
Outerchr10:77055927..77055992hg19UCSC Ensembl
chr10:76725956..76725975hg18UCSC Ensembl
Innerchr10:76725979..76725952hg18UCSC Ensembl
Outerchr10:76725933..76725998hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677714
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379237
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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