A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604584



Internal ID6991612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31646340..31679760hg38UCSC Ensembl
chr5:31646447..31679867hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3833421
hg1933421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854943, essv11854944, essv11854945
SamplesNA12717, HG00139, HG01807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604584
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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