A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646011



Internal ID6686070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49125678..49127194hg38UCSC Ensembl
Innerchr20:49125728..49127144hg38UCSC Ensembl
Outerchr20:49125628..49127244hg38UCSC Ensembl
chr20:47742215..47743731hg19UCSC Ensembl
Innerchr20:47742265..47743681hg19UCSC Ensembl
Outerchr20:47742165..47743781hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198881
SamplesNA20876
Known GenesSTAU1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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