A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731341



Internal ID13276922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37652664..37652716hg38UCSC Ensembl
Innerchr13:37652689..37652690hg38UCSC Ensembl
Outerchr13:37652564..37652816hg38UCSC Ensembl
chr13:38226801..38226853hg19UCSC Ensembl
Innerchr13:38226826..38226827hg19UCSC Ensembl
Outerchr13:38226701..38226953hg19UCSC Ensembl
chr13:37124801..37124853hg18UCSC Ensembl
Innerchr13:37124827..37124826hg18UCSC Ensembl
Outerchr13:37124701..37124953hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302581
Supporting Variants
SamplesNA12878
Known GenesTRPC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731341
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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