A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790683



Internal ID19177880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7721803..7835165hg38UCSC Ensembl
Innerchr12:7874399..7987761hg19UCSC Ensembl
Innerchr12:7765666..7879028hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38113363
hg19113363
hg18113363
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892131
Supporting Variants
Samples
Known GenesCLEC4C, NANOG, NANOGNB, SLC2A14
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790683
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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