A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6513910



Internal ID9491314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48125465..48503442hg38UCSC Ensembl
Outerchr20:48125424..48515192hg38UCSC Ensembl
Innerchr20:46754208..47131688hg19UCSC Ensembl
Outerchr20:46754167..47131730hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38389769
hg19377564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665375
Supporting Variants
SamplesNA18595
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6513910
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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