A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv332n54



Internal ID22768227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78916324..78954806hg38UCSC Ensembl
chr1:79382009..79420491hg19UCSC Ensembl
chr1:79154597..79193079hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3838483
hg1938483
hg1838483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546624, nsv546625, nsv546626
Samples
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv332n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer