A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11976325



Internal ID6428832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90361449..90380202hg38UCSC Ensembl
chr5:89657266..89676019hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3818754
hg1918754
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605760
Supporting Variants
SamplesNA20504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11976325
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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