A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645459



Internal ID7032209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19751945..19756481hg38UCSC Ensembl
Innerchr20:19751945..19756481hg38UCSC Ensembl
Outerchr20:19751649..19756517hg38UCSC Ensembl
chr20:19732589..19737125hg19UCSC Ensembl
Innerchr20:19732589..19737125hg19UCSC Ensembl
Outerchr20:19732293..19737161hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16155139, essv16155137, essv16155136, essv16155134, essv16155142, essv16155145, essv16155135, essv16155144, essv16155138, essv16155141, essv16155143, essv16155140, essv16155133
SamplesHG03548, HG02624, NA19119, HG02505, HG02561, HG02571, NA19921, HG02943, HG03120, HG03081, HG02635, HG02938, HG03063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645459
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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