A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892855



Internal ID18836989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46671431..46750308hg38UCSC Ensembl
Outerchr16:46671431..46750308hg38UCSC Ensembl
Innerchr16:46705343..46784220hg19UCSC Ensembl
Outerchr16:46705343..46784220hg19UCSC Ensembl
Innerchr16:45262844..45341721hg18UCSC Ensembl
Outerchr16:45262844..45341721hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3878878
hg1978878
hg1878878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783927, essv25784820, essv25783677
Samples
Known GenesMYLK3, ORC6, VPS35
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892855
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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