A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784130



Internal ID19161871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70862010..70975678hg38UCSC Ensembl
Innerchr5:70157837..70271505hg19UCSC Ensembl
Innerchr5:70193593..70307261hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38113669
hg19113669
hg18113669
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=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784130
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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