A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645318



Internal ID7032068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14553306..14560304hg38UCSC Ensembl
Innerchr20:14553306..14560304hg38UCSC Ensembl
Outerchr20:14553065..14560533hg38UCSC Ensembl
chr20:14533952..14540950hg19UCSC Ensembl
Innerchr20:14533952..14540950hg19UCSC Ensembl
Outerchr20:14533711..14541179hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386999
hg196999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16144505, essv16144507, essv16144508, essv16144506, essv16144504
SamplesHG00881, HG02151, HG00867, HG01670, HG02188
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645318
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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