A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799577



Internal ID19171963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42530501..42536515hg38UCSC Ensembl
Innerchr12:42924303..42930317hg19UCSC Ensembl
Innerchr12:41210570..41216584hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386015
hg196015
hg186015
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892197
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799577
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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