A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785197



Internal ID18835372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192221448..192248912hg38UCSC Ensembl
Innerchr3:191939237..191966701hg19UCSC Ensembl
Innerchr3:193421931..193449395hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3827465
hg1927465
hg1827465
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893848
Supporting Variants
Samples
Known GenesFGF12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785197
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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