A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865687



Internal ID14396160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:89481831..89481833hg38UCSC Ensembl
Innerchr13:89481831..89481833hg38UCSC Ensembl
Outerchr13:89481829..89481835hg38UCSC Ensembl
chr13:90134085..90134087hg19UCSC Ensembl
Innerchr13:90134085..90134087hg19UCSC Ensembl
Outerchr13:90134083..90134089hg19UCSC Ensembl
chr13:88932086..88932088hg18UCSC Ensembl
Innerchr13:88932088..88932086hg18UCSC Ensembl
Outerchr13:88932084..88932090hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351551
Supporting Variants
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865687
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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