A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417627



Internal ID15264585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51125215..51125228hg38UCSC Ensembl
Innerchr20:51125217..51125226hg38UCSC Ensembl
Outerchr20:51125213..51125230hg38UCSC Ensembl
chr20:49741752..49741765hg19UCSC Ensembl
Innerchr20:49741754..49741763hg19UCSC Ensembl
Outerchr20:49741750..49741767hg19UCSC Ensembl
chr20:49175159..49175172hg18UCSC Ensembl
Innerchr20:49175161..49175170hg18UCSC Ensembl
Outerchr20:49175157..49175174hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866171
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417627
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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