A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780541



Internal ID19173556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245823559..245927516hg38UCSC Ensembl
Innerchr1:245986861..246090818hg19UCSC Ensembl
Innerchr1:244053484..244157441hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38103958
hg19103958
hg18103958
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891337
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=51
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780541
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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