A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891204



Internal ID18838914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230111817..230131462hg38UCSC Ensembl
Outerchr1:230111817..230131462hg38UCSC Ensembl
Innerchr1:230247564..230267209hg19UCSC Ensembl
Outerchr1:230247564..230267209hg19UCSC Ensembl
Innerchr1:228314187..228333832hg18UCSC Ensembl
Outerchr1:228314187..228333832hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3819646
hg1919646
hg1819646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785155
Samples
Known GenesGALNT2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891204
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer