A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16123706



Internal ID6125522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4205961..5037636hg38UCSC Ensembl
Innerchr20:4206111..5037486hg38UCSC Ensembl
Outerchr20:4205811..5037786hg38UCSC Ensembl
chr20:4186608..5018282hg19UCSC Ensembl
Innerchr20:4186758..5018132hg19UCSC Ensembl
Outerchr20:4186458..5018432hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38831676
hg19831675
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645074
Supporting Variants
SamplesNA19454
Known GenesADRA1D, PRND, PRNP, PRNT, RASSF2, SLC23A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16123706
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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