A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542497



Internal ID18396887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137922370..137922440hg38UCSC Ensembl
chr7:137607116..137607186hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741244
Samples
Known GenesCREB3L2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542497
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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