A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781816



Internal ID19176880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213343566..213461255hg38UCSC Ensembl
Innerchr2:214208290..214325979hg19UCSC Ensembl
Innerchr2:213916535..214034224hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38117690
hg19117690
hg18117690
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893550
Supporting Variants
Samples
Known GenesSPAG16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781816
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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