A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646212



Internal ID6686271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57504125..57505510hg38UCSC Ensembl
Innerchr20:57504125..57505510hg38UCSC Ensembl
Outerchr20:57503834..57505764hg38UCSC Ensembl
chr20:56079181..56080566hg19UCSC Ensembl
Innerchr20:56079181..56080566hg19UCSC Ensembl
Outerchr20:56078890..56080820hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16218900, essv16218898, essv16218916, essv16218906, essv16218914, essv16218909, essv16218918, essv16218907, essv16218908, essv16218902, essv16218904, essv16218901, essv16218913, essv16218920, essv16218919, essv16218917, essv16218912, essv16218915, essv16218911, essv16218905, essv16218899, essv16218910, essv16218903
SamplesNA12249, HG00261, NA20775, NA19920, NA19834, NA19648, NA21129, HG02731, NA12004, NA19443, HG01583, NA20589, HG00133, HG01509, HG01531, HG01933, HG03913, NA12878, NA19752, NA12045, NA20904, NA20863, HG01686
Known GenesCTCFL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646212
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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