A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645259



Internal ID7032009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12477646..12494777hg38UCSC Ensembl
Innerchr20:12478146..12494277hg38UCSC Ensembl
Outerchr20:12476646..12495777hg38UCSC Ensembl
chr20:12458294..12475425hg19UCSC Ensembl
Innerchr20:12458794..12474925hg19UCSC Ensembl
Outerchr20:12457294..12476425hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3817132
hg1917132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16143140, essv16143131, essv16143136, essv16143130, essv16143132, essv16143138, essv16143139, essv16143133, essv16143129, essv16143137, essv16143135, essv16143134
SamplesHG02836, HG02323, HG02485, NA20291, NA19901, HG02882, HG02819, NA19984, HG03159, HG02594, HG03259, HG03025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645259
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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