A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818073



Internal ID3591401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13791266..13904897hg38UCSC Ensembl
chr5:13791375..13905006hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38113632
hg19113632
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604075
Supporting Variants
SamplesHG03175
Known GenesDNAH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818073
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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