A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781432



Internal ID19170863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70879187..70955874hg38UCSC Ensembl
Innerchr5:70175014..70251701hg19UCSC Ensembl
Innerchr5:70210770..70287457hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3876688
hg1976688
hg1876688
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890645
Supporting Variants
Samples
Known GenesSERF1A, SERF1B, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781432
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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