A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784043



Internal ID18814890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70374839..70437042hg38UCSC Ensembl
Innerchr5:69670666..69732869hg19UCSC Ensembl
Innerchr5:69706422..69768625hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3862204
hg1962204
hg1862204
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894210
Supporting Variants
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784043
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