A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782593



Internal ID18814566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70392523..70441472hg38UCSC Ensembl
Innerchr5:69688350..69737299hg19UCSC Ensembl
Innerchr5:69724106..69773055hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3848950
hg1948950
hg1848950
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=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782593
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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