A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412399



Internal ID14912672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79138750..79138750hg38UCSC Ensembl
Innerchr10:79138749..79138751hg38UCSC Ensembl
Outerchr10:79138690..79138800hg38UCSC Ensembl
chr10:80898507..80898507hg19UCSC Ensembl
Innerchr10:80898506..80898508hg19UCSC Ensembl
Outerchr10:80898447..80898557hg19UCSC Ensembl
chr10:80568513..80568513hg18UCSC Ensembl
Innerchr10:80568514..80568512hg18UCSC Ensembl
Outerchr10:80568453..80568563hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8810836
SamplesNA12878
Known GenesZMIZ1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412399
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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