A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890943



Internal ID19185339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125220716..125264830hg38UCSC Ensembl
Outerchr6:125220716..125265041hg38UCSC Ensembl
Innerchr6:125541862..125585976hg19UCSC Ensembl
Outerchr6:125541862..125586187hg19UCSC Ensembl
Innerchr6:125583561..125627675hg18UCSC Ensembl
Outerchr6:125583561..125627886hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3844326
hg1944326
hg1844326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788529, essv25789477, essv25790215
Samples
Known GenesTPD52L1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890943
Frequency
Sample Size3017
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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