A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893848



Internal ID18837982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192221448..192248912hg38UCSC Ensembl
Outerchr3:192221448..192248912hg38UCSC Ensembl
Innerchr3:191939237..191966701hg19UCSC Ensembl
Outerchr3:191939237..191966701hg19UCSC Ensembl
Innerchr3:193421931..193449395hg18UCSC Ensembl
Outerchr3:193421931..193449395hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3827465
hg1927465
hg1827465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785197, essv25781303, essv25786350, essv25784410, essv25779315
Samples
Known GenesFGF12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893848
Frequency
Sample Size3017
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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