A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798960



Internal ID18822859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100007917..100225312hg38UCSC Ensembl
Innerchr12:100401695..100619090hg19UCSC Ensembl
Innerchr12:98925826..99143221hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38217396
hg19217396
hg18217396
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892256
Supporting Variants
Samples
Known GenesACTR6, GOLGA2P5, MIR1827, UHRF1BP1L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=36
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798960
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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