A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8961894



Internal ID13234425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69696075..69696094hg38UCSC Ensembl
Innerchr13:69696073..69696096hg38UCSC Ensembl
Outerchr13:69696054..69696115hg38UCSC Ensembl
chr13:70270207..70270226hg19UCSC Ensembl
Innerchr13:70270205..70270228hg19UCSC Ensembl
Outerchr13:70270186..70270247hg19UCSC Ensembl
chr13:69168208..69168227hg18UCSC Ensembl
Innerchr13:69168229..69168206hg18UCSC Ensembl
Outerchr13:69168187..69168248hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38255
hg19255
hg18255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424543
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8961894
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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