A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562203



Internal ID18416593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1053192..1053243hg38UCSC Ensembl
chr1:988572..988623hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760950
Samples
Known GenesAGRN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562203
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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