A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891226



Internal ID19185622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234465840..234477304hg38UCSC Ensembl
Outerchr1:234465840..234477304hg38UCSC Ensembl
Innerchr1:234601586..234613050hg19UCSC Ensembl
Outerchr1:234601586..234613050hg19UCSC Ensembl
Innerchr1:232668209..232679673hg18UCSC Ensembl
Outerchr1:232668209..232679673hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3811465
hg1911465
hg1811465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780887
Samples
Known GenesTARBP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891226
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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