A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645487



Internal ID7032236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21141431..21143327hg38UCSC Ensembl
Innerchr20:21141432..21143326hg38UCSC Ensembl
Outerchr20:21141430..21143328hg38UCSC Ensembl
chr20:21122072..21123968hg19UCSC Ensembl
Innerchr20:21122073..21123967hg19UCSC Ensembl
Outerchr20:21122071..21123969hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381897
hg191897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16155739, essv16155731, essv16155730, essv16155729, essv16155733, essv16155735, essv16155738, essv16155736, essv16155732, essv16155737, essv16155734
SamplesHG02496, HG02628, HG01188, HG03385, HG01242, HG02489, HG03380, NA19257, HG03354, HG02568, HG03470
Known GenesPLK1S1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645487
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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