A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837617



Internal ID15082083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787397..85787398hg38UCSC Ensembl
Innerchr13:85787339..85787456hg38UCSC Ensembl
Outerchr13:85787338..85787457hg38UCSC Ensembl
chr13:86361532..86361533hg19UCSC Ensembl
Innerchr13:86361474..86361591hg19UCSC Ensembl
Outerchr13:86361473..86361592hg19UCSC Ensembl
chr13:85259533..85259534hg18UCSC Ensembl
Innerchr13:85259592..85259475hg18UCSC Ensembl
Outerchr13:85259474..85259593hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309032
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837617
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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