A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736397



Internal ID13093100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100479973..100480023hg38UCSC Ensembl
Outerchr13:100479773..100480223hg38UCSC Ensembl
Innerchr13:101132227..101132277hg19UCSC Ensembl
Outerchr13:101132027..101132477hg19UCSC Ensembl
Innerchr13:99930228..99930278hg18UCSC Ensembl
Outerchr13:99930028..99930478hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38451
hg19451
hg18451
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303042
Supporting Variants
SamplesNA10847
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736397
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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