A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344438



Internal ID15191422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82710081..82710101hg38UCSC Ensembl
Innerchr13:82710087..82710093hg38UCSC Ensembl
Outerchr13:82710069..82710113hg38UCSC Ensembl
chr13:83284216..83284236hg19UCSC Ensembl
Innerchr13:83284222..83284228hg19UCSC Ensembl
Outerchr13:83284204..83284248hg19UCSC Ensembl
chr13:82182217..82182237hg18UCSC Ensembl
Innerchr13:82182229..82182223hg18UCSC Ensembl
Outerchr13:82182205..82182249hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381038
hg191038
hg181038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8962394, essv8962393, essv8962391, essv8962395
SamplesNA18502, NA18907, NA18856, NA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344438
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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