A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5792188



Internal ID8769591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62184170..62185194hg38UCSC Ensembl
Outerchr20:62184133..62185244hg38UCSC Ensembl
Innerchr20:60759226..60760250hg19UCSC Ensembl
Outerchr20:60759189..60760300hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665017
Supporting Variants
SamplesHG00542
Known GenesMTG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5792188
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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