A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645350



Internal ID7032100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14875988..14925321hg38UCSC Ensembl
Innerchr20:14876001..14925309hg38UCSC Ensembl
Outerchr20:14875976..14925334hg38UCSC Ensembl
chr20:14856634..14905967hg19UCSC Ensembl
Innerchr20:14856647..14905955hg19UCSC Ensembl
Outerchr20:14856622..14905980hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3849334
hg1949334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144817, essv16144816, essv16144822, essv16144826, essv16144819, essv16144820, essv16144821, essv16144823, essv16144818, essv16144824, essv16144825
SamplesNA20762, HG02691, HG03295, HG04182, NA12761, HG03756, NA20767, NA20527, HG00672, HG02694, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645350
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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