A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765103



Internal ID1766919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52755..65540hg38UCSC Ensembl
chr5:52870..65655hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3812786
hg1912786
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603723
Supporting Variants
SamplesHG01866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765103
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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