A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893223



Internal ID18837357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46773197..46810074hg38UCSC Ensembl
Outerchr19:46773197..46810074hg38UCSC Ensembl
Innerchr19:47276454..47313331hg19UCSC Ensembl
Outerchr19:47276454..47313331hg19UCSC Ensembl
Innerchr19:51968294..52005171hg18UCSC Ensembl
Outerchr19:51968294..52005171hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3836878
hg1936878
hg1836878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789333, essv25788765
Samples
Known GenesSLC1A5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893223
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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