A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663630



Internal ID9583049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45208176..45208356hg38UCSC Ensembl
chr20:43836817..43836997hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5947715, essv6577739, essv6087570, essv5746045, essv5996922, essv6450103
SamplesHG01070, HG00338, HG00443, NA19403, HG01101, HG00258
Known GenesSEMG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663630
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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