A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890972



Internal ID18838682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:158082895..158303958hg38UCSC Ensembl
Outerchr6:158082895..158303958hg38UCSC Ensembl
Innerchr6:158503927..158724990hg19UCSC Ensembl
Outerchr6:158503927..158724990hg19UCSC Ensembl
Innerchr6:158423915..158644978hg18UCSC Ensembl
Outerchr6:158423915..158644978hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38221064
hg19221064
hg18221064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789390
Samples
Known GenesGTF2H5, SERAC1, SYNJ2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890972
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