A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11785929



Internal ID6945716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1893188..1945789hg38UCSC Ensembl
chr5:1893302..1945903hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3852602
hg1952602
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603825
Supporting Variants
SamplesNA21128
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11785929
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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