A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780807



Internal ID19179413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213738186..213858900hg38UCSC Ensembl
Innerchr2:214602910..214723624hg19UCSC Ensembl
Innerchr2:214311155..214431869hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38120715
hg19120715
hg18120715
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893551
Supporting Variants
Samples
Known GenesSPAG16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780807
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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