A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415394



Internal ID14915667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77537316..77538214hg38UCSC Ensembl
Innerchr13:77537315..77538215hg38UCSC Ensembl
Outerchr13:77536316..77539214hg38UCSC Ensembl
chr13:78111451..78112349hg19UCSC Ensembl
Innerchr13:78111450..78112350hg19UCSC Ensembl
Outerchr13:78110451..78113349hg19UCSC Ensembl
chr13:77009452..77010350hg18UCSC Ensembl
Innerchr13:77010351..77009451hg18UCSC Ensembl
Outerchr13:77008452..77011350hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689003
SamplesNA19239
Known GenesSCEL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415394
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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