A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25801518



Internal ID19179848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66252419..66271494hg38UCSC Ensembl
Innerchr12:66646199..66665274hg19UCSC Ensembl
Innerchr12:64932466..64951541hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3819076
hg1919076
hg1819076
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892211
Supporting Variants
Samples
Known GenesIRAK3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25801518
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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