A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894207



Internal ID18838590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69553524..69608851hg38UCSC Ensembl
Outerchr5:69553524..69608851hg38UCSC Ensembl
Innerchr5:68849351..68904678hg19UCSC Ensembl
Outerchr5:68849351..68904678hg19UCSC Ensembl
Innerchr5:68885107..68940434hg18UCSC Ensembl
Outerchr5:68885107..68940434hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3855328
hg1955328
hg1855328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785086
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894207
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