A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562357



Internal ID18416747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108912085..108913866hg38UCSC Ensembl
Outerchr3:108911831..108914004hg38UCSC Ensembl
Innerchr3:108630932..108632713hg19UCSC Ensembl
Outerchr3:108630678..108632851hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg382174
hg192174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761104
Samples
Known GenesGUCA1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562357
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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