A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198933



Internal ID1356608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49749615..49779868hg38UCSC Ensembl
chr20:48366152..48396405hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3830254
hg1930254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646031
Supporting Variants
SamplesHG01197
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198933
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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