A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786614



Internal ID19182428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70801077..71003941hg38UCSC Ensembl
Innerchr5:70096904..70299768hg19UCSC Ensembl
Innerchr5:70132660..70335524hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38202865
hg19202865
hg18202865
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890650
Supporting Variants
Samples
Known GenesNAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786614
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