A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789886



Internal ID19178506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37571120..38179560hg38UCSC Ensembl
Innerchr12:37964922..38573362hg19UCSC Ensembl
Innerchr12:36251189..36859629hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38608441
hg19608441
hg18608441
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892186
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=48
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789886
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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