A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560490



Internal ID18414880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166988479..166994468hg38UCSC Ensembl
Outerchr2:166988335..166994724hg38UCSC Ensembl
Innerchr2:167844989..167850978hg19UCSC Ensembl
Outerchr2:167844845..167851234hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386390
hg196390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759237
Samples
Known GenesXIRP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560490
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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