A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179921



Internal ID1239161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37060566..37074965hg38UCSC Ensembl
chr20:35688969..35703368hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3814400
hg1914400
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645751
Supporting Variants
SamplesHG01097
Known GenesRBL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179921
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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