A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800430



Internal ID19176645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70785607..70979893hg38UCSC Ensembl
Innerchr5:70081434..70275720hg19UCSC Ensembl
Innerchr5:70117190..70311476hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38194287
hg19194287
hg18194287
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890650
Supporting Variants
Samples
Known GenesGUSBP9, NAIP, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=41
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800430
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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