A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9879240



Internal ID5238352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19529114..19558652hg38UCSC Ensembl
chr1:19855608..19885146hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3829539
hg1929539
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585399
Supporting Variants
SamplesNA18629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9879240
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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