A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7757769



Internal ID13487782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787413..85787414hg38UCSC Ensembl
Innerchr13:85787383..85787444hg38UCSC Ensembl
Outerchr13:85787382..85787445hg38UCSC Ensembl
chr13:86361548..86361549hg19UCSC Ensembl
Innerchr13:86361518..86361579hg19UCSC Ensembl
Outerchr13:86361517..86361580hg19UCSC Ensembl
chr13:85259549..85259550hg18UCSC Ensembl
Innerchr13:85259580..85259519hg18UCSC Ensembl
Outerchr13:85259518..85259581hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307372
Supporting Variants
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7757769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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