A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688960



Internal ID14701957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45356317..45357715hg38UCSC Ensembl
Innerchr13:45356715..45357317hg38UCSC Ensembl
Outerchr13:45355317..45358715hg38UCSC Ensembl
chr13:45930452..45931850hg19UCSC Ensembl
Innerchr13:45930850..45931452hg19UCSC Ensembl
Outerchr13:45929452..45932850hg19UCSC Ensembl
chr13:44828452..44829850hg18UCSC Ensembl
Innerchr13:44829452..44828850hg18UCSC Ensembl
Outerchr13:44827452..44830850hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3403190
Supporting Variants
SamplesNA19239
Known GenesTPT1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688960
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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