A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550900



Internal ID18751976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17358289..17358561hg38UCSC Ensembl
Outerchr1:17358248..17358613hg38UCSC Ensembl
Innerchr1:17684784..17685056hg19UCSC Ensembl
Outerchr1:17684743..17685108hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749647
Samples
Known GenesPADI4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550900
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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