A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791550



Internal ID18828344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22953158..24341409hg38UCSC Ensembl
Innerchr13:23527297..24915547hg19UCSC Ensembl
Innerchr13:22425297..23813547hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381388252
hg191388251
hg181388251
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892311
Supporting Variants
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=514
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791550
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