A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16201827



Internal ID3713826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52251724..52296850hg38UCSC Ensembl
chr20:50868263..50913389hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3845127
hg1945127
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646086
Supporting Variants
SamplesHG03342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16201827
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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