A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789390



Internal ID18826274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:158082895..158303958hg38UCSC Ensembl
Innerchr6:158503927..158724990hg19UCSC Ensembl
Innerchr6:158423915..158644978hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38221064
hg19221064
hg18221064
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890972
Supporting Variants
Samples
Known GenesGTF2H5, SERAC1, SYNJ2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789390
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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