A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891714



Internal ID18839424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32684857..32760599hg38UCSC Ensembl
Outerchr2:32684857..32760599hg38UCSC Ensembl
Innerchr2:32909924..32985666hg19UCSC Ensembl
Outerchr2:32909924..32985666hg19UCSC Ensembl
Innerchr2:32763428..32839170hg18UCSC Ensembl
Outerchr2:32763428..32839170hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3875743
hg1975743
hg1875743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788443
Samples
Known GenesTTC27
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891714
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