A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414930



Internal ID15261889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:34063153..34063181hg38UCSC Ensembl
Innerchr13:34063163..34063169hg38UCSC Ensembl
Outerchr13:34063137..34063197hg38UCSC Ensembl
chr13:34637290..34637318hg19UCSC Ensembl
Innerchr13:34637300..34637306hg19UCSC Ensembl
Outerchr13:34637274..34637334hg19UCSC Ensembl
chr13:33535290..33535318hg18UCSC Ensembl
Innerchr13:33535306..33535300hg18UCSC Ensembl
Outerchr13:33535274..33535334hg18UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959743, essv8959745, essv8959746, essv8959748, essv8959744
SamplesNA18916, NA19172, NA18871, NA18501, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414930
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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