A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11784539



Internal ID1786355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1638442..1833414hg38UCSC Ensembl
chr5:1638557..1833528hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38194973
hg19194972
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603817
Supporting Variants
SamplesHG00581
Known GenesMIR4277, MRPL36, NDUFS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11784539
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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