A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797695



Internal ID18824466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99679694..99689391hg38UCSC Ensembl
Innerchr12:100073472..100083169hg19UCSC Ensembl
Innerchr12:98597603..98607300hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389698
hg199698
hg189698
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892254
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797695
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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