A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782217



Internal ID18833275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32181558..32197769hg38UCSC Ensembl
Innerchr12:32334492..32350703hg19UCSC Ensembl
Innerchr12:32225759..32241970hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3816212
hg1916212
hg1816212
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892175
Supporting Variants
Samples
Known GenesBICD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782217
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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