A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002390



Internal ID7067506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94828611..94828611hg38UCSC Ensembl
chr2:95494356..95494356hg19UCSC Ensembl
chr2:94858083..94858083hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566650
SamplesHuRef
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002390
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