A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892938



Internal ID18837072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88805821..88829729hg38UCSC Ensembl
Outerchr16:88805821..88829729hg38UCSC Ensembl
Innerchr16:88872229..88896137hg19UCSC Ensembl
Outerchr16:88872229..88896137hg19UCSC Ensembl
Innerchr16:87399730..87423638hg18UCSC Ensembl
Outerchr16:87399730..87423638hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3823909
hg1923909
hg1823909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778375
Samples
Known GenesAPRT, CDT1, GALNS
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892938
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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