A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16144129



Internal ID6145945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13881497..13897813hg38UCSC Ensembl
chr20:13862143..13878459hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3816317
hg1916317
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645295
Supporting Variants
SamplesHG02399
Known GenesSEL1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16144129
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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