A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785805



Internal ID19182073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70747002..70955874hg38UCSC Ensembl
Innerchr5:70042829..70251701hg19UCSC Ensembl
Innerchr5:70078585..70287457hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38208873
hg19208873
hg18208873
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890650
Supporting Variants
Samples
Known GenesGUSBP9, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785805
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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