A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv27n145



Internal ID22813043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64894248..64898693hg38UCSC Ensembl
chr1:65359931..65364376hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384446
hg194446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114341, nsv3111534
Samplessample216, sample140, sample32
Known GenesJAK1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv27n145
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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