A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560275



Internal ID18414665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143168839..143170098hg38UCSC Ensembl
Outerchr2:143168570..143170145hg38UCSC Ensembl
Innerchr2:143926408..143927667hg19UCSC Ensembl
Outerchr2:143926139..143927714hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759022
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560275
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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