A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796416



Internal ID19181375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28988947..28998353hg38UCSC Ensembl
Innerchr17:27315965..27325371hg19UCSC Ensembl
Innerchr17:24340091..24349497hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389407
hg199407
hg189407
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892990
Supporting Variants
Samples
Known GenesSEZ6
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796416
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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