A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv565n54



Internal ID20133989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152525209..152580889hg38UCSC Ensembl
chr1:152497685..152553365hg19UCSC Ensembl
chr1:150764309..150819989hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3855681
hg1955681
hg1855681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547863, nsv547864, nsv547860, nsv547861
SamplesHGDP00999, HGDP00841, HGDP01019
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv565n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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