A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11516920



Internal ID1518736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80819262..81219236hg38UCSC Ensembl
chr4:81740416..82140390hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38399975
hg19399975
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601143
Supporting Variants
SamplesNA20299
Known GenesBMP3, C4orf22, PRKG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11516920
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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