A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv568n54



Internal ID22768463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152557356..152625472hg38UCSC Ensembl
chr1:152529832..152597948hg19UCSC Ensembl
chr1:150796456..150864572hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3868117
hg1968117
hg1868117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547883, nsv547876, nsv547870, nsv547877, nsv547878, nsv547871, nsv547881
SamplesHGDP00846, HGDP00998, HGDP01048, HGDP01008, HGDP00868
Known GenesLCE3A, LCE3B, LCE3C, LCE3D, LCE3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv568n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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