A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787368



Internal ID19173625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40145056..40173845hg38UCSC Ensembl
Innerchr12:40538858..40567647hg19UCSC Ensembl
Innerchr12:38825125..38853914hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828790
hg1928790
hg1828790
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892189
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787368
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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