A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868579



Internal ID6069209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35501706..35562992hg38UCSC Ensembl
chr5:35501808..35563094hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3861287
hg1961287
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604706
Supporting Variants
SamplesNA19457
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868579
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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