A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892436



Internal ID18836570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101443165..101456121hg38UCSC Ensembl
Outerchr13:101443165..101456121hg38UCSC Ensembl
Innerchr13:102095516..102108472hg19UCSC Ensembl
Outerchr13:102095516..102108472hg19UCSC Ensembl
Innerchr13:100893517..100906473hg18UCSC Ensembl
Outerchr13:100893517..100906473hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3812957
hg1912957
hg1812957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784119
Samples
Known GenesITGBL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892436
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