A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891348



Internal ID19185744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246026700..246183851hg38UCSC Ensembl
Outerchr1:246017768..246320481hg38UCSC Ensembl
Innerchr1:246190002..246347153hg19UCSC Ensembl
Outerchr1:246181070..246483783hg19UCSC Ensembl
Innerchr1:244256625..244413776hg18UCSC Ensembl
Outerchr1:244247693..244550406hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38302714
hg19302714
hg18302714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779413, essv25787575, essv25785994
Samples
Known GenesSMYD3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891348
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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