A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796405



Internal ID19167071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35655292..35732449hg38UCSC Ensembl
Innerchr5:35655394..35732551hg19UCSC Ensembl
Innerchr5:35691151..35768308hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3877158
hg1977158
hg1877158
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=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796405
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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