A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198877



Internal ID6200693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49101246..49121848hg38UCSC Ensembl
chr20:47717783..47738385hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3820603
hg1920603
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646010
Supporting Variants
SamplesHG03689
Known GenesSTAU1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198877
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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