A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789740



Internal ID19179805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30254095..30404046hg38UCSC Ensembl
Innerchr12:30407028..30556979hg19UCSC Ensembl
Innerchr12:30298295..30448246hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38149952
hg19149952
hg18149952
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892172
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789740
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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