A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000562



Internal ID6712704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63101632..63105273hg38UCSC Ensembl
Outerchr20:61732984..61736625hg19UCSC Ensembl
Outerchr20:61203429..61207070hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383062
hg193062
hg183062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564842
SamplesHuRef
Known GenesHAR1A, HAR1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000562
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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