A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892771



Internal ID18836905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6698807..6735658hg38UCSC Ensembl
Outerchr16:6695598..6742418hg38UCSC Ensembl
Innerchr16:6748808..6785659hg19UCSC Ensembl
Outerchr16:6745599..6792419hg19UCSC Ensembl
Innerchr16:6688809..6725660hg18UCSC Ensembl
Outerchr16:6685600..6732420hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3846821
hg1946821
hg1846821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778510, essv25779861, essv25797942, essv25800039, essv25783704, essv25779490
Samples
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892771
Frequency
Sample Size3017
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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