A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15984115



Internal ID6421594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5558188..5565500hg38UCSC Ensembl
chr19:5558199..5565511hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387313
hg197313
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643529
Supporting Variants
SamplesNA20502
Known GenesTINCR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15984115
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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