A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894156



Internal ID18838539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143674158..143876423hg38UCSC Ensembl
Outerchr1:143674158..144572337hg38UCSC Ensembl
Innerchr1:149168798..149370974hg19UCSC Ensembl
Outerchr1:149168798..149512609hg19UCSC Ensembl
Innerchr1:147435422..147637598hg18UCSC Ensembl
Outerchr1:147435422..147779233hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38898180
hg19343812
hg18343812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779372, essv25783985, essv25783862, essv25785694, essv25781470, essv25779767, essv25784110, essv25782745, essv25779973, essv25781951, essv25782249, essv25800722, essv25784723, essv25779110, essv25782629
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894156
Frequency
Sample Size3017
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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