A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645023



Internal ID7031774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2957287..3032500hg38UCSC Ensembl
Innerchr20:2957437..3032350hg38UCSC Ensembl
Outerchr20:2957137..3032650hg38UCSC Ensembl
chr20:2937933..3013146hg19UCSC Ensembl
Innerchr20:2938083..3012996hg19UCSC Ensembl
Outerchr20:2937783..3013296hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3875214
hg1975214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16121197
SamplesNA19454
Known GenesPTPRA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645023
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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