A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv389n54



Internal ID22768284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102973239..103082941hg38UCSC Ensembl
chr1:103438795..103548497hg19UCSC Ensembl
chr1:103211383..103321085hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38109703
hg19109703
hg18109703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546938, nsv546937
SamplesHGDP00580, NINDS_160
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv389n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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