A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13186144



Internal ID5910802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43330007..43390261hg38UCSC Ensembl
chr8:43185150..43245404hg19UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg3860255
hg1960255
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617033
Supporting Variants
SamplesNA19323
Known GenesPOTEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13186144
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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