A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756991



Internal ID18731237
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 StatusS
Merged Variantsesv3558244
Supporting Variants
Samples
Known GenesNFU1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756991
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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