A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11953018



Internal ID1954834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79531454..79772168hg38UCSC Ensembl
chr5:78827277..79067991hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38240715
hg19240715
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605535
Supporting Variants
SamplesNA18536
Known GenesCMYA5, PAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11953018
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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