A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672392



Internal ID9938497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11745115..11751999hg38UCSC Ensembl
chr20:11725763..11732647hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386885
hg196885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6390473, essv5815774
SamplesNA19449, NA19452
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672392
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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