A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv220n54



Internal ID20133644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27522789..27631734hg38UCSC Ensembl
chr1:27849300..27958245hg19UCSC Ensembl
chr1:27721887..27830832hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38108946
hg19108946
hg18108946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545913, nsv545914, nsv545915
SamplesHGDP00890
Known GenesAHDC1, FGR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv220n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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