A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560276



Internal ID18414666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143169703..143169763hg38UCSC Ensembl
chr2:143927272..143927332hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759023
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560276
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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