A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759025



Internal ID18386585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143210264..143210962hg38UCSC Ensembl
Outerchr2:143210259..143210976hg38UCSC Ensembl
Innerchr2:143967833..143968531hg19UCSC Ensembl
Outerchr2:143967828..143968545hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560278
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759025
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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