A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749414



Internal ID13864527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26376189..26376190hg38UCSC Ensembl
Innerchr13:26376143..26376236hg38UCSC Ensembl
Outerchr13:26376142..26376237hg38UCSC Ensembl
chr13:26950326..26950327hg19UCSC Ensembl
Innerchr13:26950280..26950373hg19UCSC Ensembl
Outerchr13:26950279..26950374hg19UCSC Ensembl
chr13:25848326..25848327hg18UCSC Ensembl
Innerchr13:25848373..25848280hg18UCSC Ensembl
Outerchr13:25848279..25848374hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304269
Supporting Variants
SamplesNA18516
Known GenesCDK8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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