A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688966



Internal ID14702189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45843016..45844214hg38UCSC Ensembl
Innerchr13:45843214..45844016hg38UCSC Ensembl
Outerchr13:45842016..45845214hg38UCSC Ensembl
chr13:46417151..46418349hg19UCSC Ensembl
Innerchr13:46417349..46418151hg19UCSC Ensembl
Outerchr13:46416151..46419349hg19UCSC Ensembl
chr13:45315152..45316350hg18UCSC Ensembl
Innerchr13:45316152..45315350hg18UCSC Ensembl
Outerchr13:45314152..45317350hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450837
Supporting Variants
SamplesNA19239
Known GenesSIAH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688966
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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