A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12002345



Internal ID5583877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103308571..103434053hg38UCSC Ensembl
chr5:102644272..102769754hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38125483
hg19125483
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606066
Supporting Variants
SamplesNA19025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12002345
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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