A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428325



Internal ID14928595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705913..75705941hg38UCSC Ensembl
Innerchr13:75705918..75705934hg38UCSC Ensembl
Outerchr13:75705890..75705962hg38UCSC Ensembl
chr13:76280049..76280077hg19UCSC Ensembl
Innerchr13:76280054..76280070hg19UCSC Ensembl
Outerchr13:76280026..76280098hg19UCSC Ensembl
chr13:75178050..75178078hg18UCSC Ensembl
Innerchr13:75178071..75178055hg18UCSC Ensembl
Outerchr13:75178027..75178099hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8962031, essv8962032, essv8962029, essv8962030
SamplesNA07037, NA07051, NA07357, NA18940
Known GenesLMO7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428325
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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