A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6308121



Internal ID9285524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48125962..48515172hg38UCSC Ensembl
Outerchr20:48125928..48515207hg38UCSC Ensembl
Innerchr20:46754705..47131710hg19UCSC Ensembl
Outerchr20:46754671..47131745hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38389280
hg19377075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674669
Supporting Variants
SamplesNA18519
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6308121
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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