A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676941



Internal ID9596360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14876008..14925303hg38UCSC Ensembl
Outerchr20:14875971..14925353hg38UCSC Ensembl
Innerchr20:14856654..14905949hg19UCSC Ensembl
Outerchr20:14856617..14905999hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3849383
hg1949383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5695662
SamplesHG00672
Known GenesMACROD2, MACROD2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676941
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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