A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800658



Internal ID18821138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131384194..131540895hg38UCSC Ensembl
Innerchr2:132141767..132298468hg19UCSC Ensembl
Innerchr2:131858237..132014938hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38156702
hg19156702
hg18156702
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893359
Supporting Variants
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800658
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