A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784551



Internal ID18827542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155675907..155689688hg38UCSC Ensembl
Innerchr4:156597059..156610840hg19UCSC Ensembl
Innerchr4:156816509..156830290hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3813782
hg1913782
hg1813782
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894054
Supporting Variants
Samples
Known GenesGUCY1A3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784551
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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