A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818075



Internal ID1819891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13816838..14092620hg38UCSC Ensembl
chr5:13816947..14092729hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38275783
hg19275783
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604077
Supporting Variants
SamplesHG03175
Known GenesDNAH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818075
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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