A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785087



Internal ID18829746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70401988..70481983hg38UCSC Ensembl
Innerchr5:69697815..69777810hg19UCSC Ensembl
Innerchr5:69733571..69813566hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3879996
hg1979996
hg1879996
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890643
Supporting Variants
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785087
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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