A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023527



Internal ID4753390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113600969..113614543hg38UCSC Ensembl
chr5:112936666..112950240hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3813575
hg1913575
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606318
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023527
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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