A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554292



Internal ID18755368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29266282..29267092hg38UCSC Ensembl
Outerchr17:29266145..29267253hg38UCSC Ensembl
Innerchr17:27593300..27594110hg19UCSC Ensembl
Outerchr17:27593163..27594271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381109
hg191109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753039
Samples
Known GenesNUFIP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554292
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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