A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893505



Internal ID19184325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163972809..164029729hg38UCSC Ensembl
Outerchr2:163972809..164029729hg38UCSC Ensembl
Innerchr2:164829319..164886239hg19UCSC Ensembl
Outerchr2:164829319..164886239hg19UCSC Ensembl
Innerchr2:164537565..164594485hg18UCSC Ensembl
Outerchr2:164537565..164594485hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3856921
hg1956921
hg1856921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782840
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893505
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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