A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218923



Internal ID4829405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57751353..57754979hg38UCSC Ensembl
Innerchr20:57751381..57754952hg38UCSC Ensembl
Outerchr20:57751326..57755007hg38UCSC Ensembl
chr20:56326409..56330035hg19UCSC Ensembl
Innerchr20:56326437..56330008hg19UCSC Ensembl
Outerchr20:56326382..56330063hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg383627
hg193627
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646215
Supporting Variants
SamplesNA12046
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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