A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759022



Internal ID18386582
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 StatusS
Merged Variantsesv3560275
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759022
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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