A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791555



Internal ID18813567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2658220..3462226hg38UCSC Ensembl
Innerchr8:2515736..3319748hg19UCSC Ensembl
Innerchr8:2503143..3307156hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38804007
hg19804013
hg18804014
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891261
Supporting Variants
Samples
Known GenesCSMD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=448
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791555
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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