A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645326



Internal ID6685388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14692004..14895072hg38UCSC Ensembl
Innerchr20:14692024..14895052hg38UCSC Ensembl
Outerchr20:14691984..14895092hg38UCSC Ensembl
chr20:14672650..14875718hg19UCSC Ensembl
Innerchr20:14672670..14875698hg19UCSC Ensembl
Outerchr20:14672630..14875738hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38203069
hg19203069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144529, essv16144533, essv16144531, essv16144532, essv16144530
SamplesNA20846, NA21105, NA20767, NA20897, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645326
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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