A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893582



Internal ID18837716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241821357..241977794hg38UCSC Ensembl
Outerchr2:241821357..241977794hg38UCSC Ensembl
Innerchr2:242763542..242919945hg19UCSC Ensembl
Outerchr2:242763542..242919945hg19UCSC Ensembl
Innerchr2:242412215..242568618hg18UCSC Ensembl
Outerchr2:242412215..242568618hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38156438
hg19156404
hg18156404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788797
Samples
Known GenesCXXC11, PDCD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893582
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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