A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787664



Internal ID18813063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40872050..41000241hg38UCSC Ensembl
Innerchr5:40872152..41000343hg19UCSC Ensembl
Innerchr5:40907909..41036100hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38128192
hg19128192
hg18128192
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894179
Supporting Variants
Samples
Known GenesC7, MROH2B
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787664
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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