A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16234612



Internal ID3142478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64248442..64290152hg38UCSC Ensembl
chr20:62879795..62921505hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3841711
hg1941711
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646339
Supporting Variants
SamplesHG02769
Known GenesPCMTD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16234612
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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