A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv388n54



Internal ID22768283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102973239..103034340hg38UCSC Ensembl
chr1:103438795..103499896hg19UCSC Ensembl
chr1:103211383..103272484hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3861102
hg1961102
hg1861102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546936, nsv546935
Samples1780862310_A
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv388n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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