A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558244



Internal ID18759320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69436772..69436874hg38UCSC Ensembl
Outerchr2:69436759..69436880hg38UCSC Ensembl
Innerchr2:69663904..69664006hg19UCSC Ensembl
Outerchr2:69663891..69664012hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756991
Samples
Known GenesNFU1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558244
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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