A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779413



Internal ID19162713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246017768..246314834hg38UCSC Ensembl
Innerchr1:246181070..246478136hg19UCSC Ensembl
Innerchr1:244247693..244544759hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38297067
hg19297067
hg18297067
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891348
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=82
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779413
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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