A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800089



Internal ID19169643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70862010..71003941hg38UCSC Ensembl
Innerchr5:70157837..70299768hg19UCSC Ensembl
Innerchr5:70193593..70335524hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38141932
hg19141932
hg18141932
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=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800089
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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