A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548611



Internal ID18403001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234394910..234395044hg38UCSC Ensembl
chr1:234530656..234530790hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747358
Samples
Known GenesTARBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548611
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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