A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797373



Internal ID19169499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35655292..35710228hg38UCSC Ensembl
Innerchr5:35655394..35710330hg19UCSC Ensembl
Innerchr5:35691151..35746087hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3854937
hg1954937
hg1854937
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894175
Supporting Variants
Samples
Known GenesSPEF2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797373
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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