A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173504



Internal ID6175320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31820268..31822444hg38UCSC Ensembl
Innerchr20:31820268..31822444hg38UCSC Ensembl
Outerchr20:31820201..31822517hg38UCSC Ensembl
chr20:30408071..30410247hg19UCSC Ensembl
Innerchr20:30408071..30410247hg19UCSC Ensembl
Outerchr20:30408004..30410320hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382177
hg192177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645657
Supporting Variants
SamplesNA18550
Known GenesMYLK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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