A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797832



Internal ID18825084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27501613hg38UCSC Ensembl
Innerchr12:27648411..27654546hg19UCSC Ensembl
Innerchr12:27539678..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892166
Supporting Variants
Samples
Known GenesSMCO2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797832
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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