A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786909



Internal ID19169054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70893453..70995423hg38UCSC Ensembl
Innerchr5:70189280..70291250hg19UCSC Ensembl
Innerchr5:70225036..70327006hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38101971
hg19101971
hg18101971
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890645
Supporting Variants
Samples
Known GenesNAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786909
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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