A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893550



Internal ID19184370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213343566..213461255hg38UCSC Ensembl
Outerchr2:213343566..213461255hg38UCSC Ensembl
Innerchr2:214208290..214325979hg19UCSC Ensembl
Outerchr2:214208290..214325979hg19UCSC Ensembl
Innerchr2:213916535..214034224hg18UCSC Ensembl
Outerchr2:213916535..214034224hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38117690
hg19117690
hg18117690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781816, essv25785383
Samples
Known GenesSPAG16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893550
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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