A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759400



Internal ID18733646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183067217..183067398hg38UCSC Ensembl
Outerchr2:183067213..183067405hg38UCSC Ensembl
Innerchr2:183931945..183932126hg19UCSC Ensembl
Outerchr2:183931941..183932133hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560653
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759400
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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