A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759023



Internal ID18386583
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 StatusS
Merged Variantsesv3560276
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759023
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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