A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790635



Internal ID18832612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51418581..52060832hg38UCSC Ensembl
Innerchr13:51992717..52634968hg19UCSC Ensembl
Innerchr13:50890718..51532969hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38642252
hg19642252
hg18642252
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892343
Supporting Variants
Samples
Known GenesALG11, ATP7B, CCDC70, DHRS12, INTS6, INTS6-AS1, LINC00282, MIR4703, UTP14C, WDFY2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=117
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790635
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