A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645976



Internal ID6686036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47774058..47786990hg38UCSC Ensembl
Innerchr20:47774208..47786840hg38UCSC Ensembl
Outerchr20:47773908..47787140hg38UCSC Ensembl
chr20:46402802..46415734hg19UCSC Ensembl
Innerchr20:46402952..46415584hg19UCSC Ensembl
Outerchr20:46402652..46415884hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3812933
hg1912933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16197497, essv16197496, essv16197498
SamplesNA19355, HG03875, NA19434
Known GenesSULF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645976
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer