A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561099



Internal ID18415489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227193998..227194053hg38UCSC Ensembl
chr2:228058714..228058769hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759846
Samples
Known GenesCOL4A3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561099
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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