A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666538



Internal ID9585957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48126030..48503239hg38UCSC Ensembl
Outerchr20:48125996..48503274hg38UCSC Ensembl
Innerchr20:46754773..47131485hg19UCSC Ensembl
Outerchr20:46754739..47131520hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38377279
hg19376782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv792e199
Supporting Variantsessv5481905
SamplesHG00475
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666538
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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