A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3025000



Internal ID11044667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200826627..200826720hg38UCSC Ensembl
chr2:201691350..201691443hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7294567
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3025000
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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