A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645346



Internal ID6685408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14837253..14955453hg38UCSC Ensembl
Innerchr20:14837753..14954953hg38UCSC Ensembl
Outerchr20:14836253..14956453hg38UCSC Ensembl
chr20:14817899..14936099hg19UCSC Ensembl
Innerchr20:14818399..14935599hg19UCSC Ensembl
Outerchr20:14816899..14937099hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38118201
hg19118201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144778, essv16144777, essv16144779, essv16144774, essv16144775, essv16144776
SamplesNA20762, HG03295, HG04182, HG03756, NA20767, NA18876
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645346
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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