A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645228



Internal ID7031978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11745117..11752055hg38UCSC Ensembl
Innerchr20:11745117..11752055hg38UCSC Ensembl
Outerchr20:11744934..11752201hg38UCSC Ensembl
chr20:11725765..11732703hg19UCSC Ensembl
Innerchr20:11725765..11732703hg19UCSC Ensembl
Outerchr20:11725582..11732849hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386939
hg196939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16142753, essv16142752
SamplesNA19449, NA19452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645228
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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