A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789531



Internal ID19166043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:87348886..87434943hg38UCSC Ensembl
Innerchr8:88361114..88447171hg19UCSC Ensembl
Innerchr8:88430230..88516287hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3886058
hg1986058
hg1886058
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891436
Supporting Variants
Samples
Known GenesCNBD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789531
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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