A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n50



Internal ID18992111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2553995..2567688hg38UCSC Ensembl
chr1:2485434..2499127hg19UCSC Ensembl
chr1:2472748..2489106hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813694
hg1913694
hg1816359
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv513632, nsv513633
Samples1
Known GenesLOC100133445, LOC115110, TNFRSF14
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)dgv1n50
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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