A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7848n54



Internal ID22775743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41687463..41716229hg38UCSC Ensembl
chr21:43107623..43136389hg19UCSC Ensembl
chr21:41980692..42009458hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3828767
hg1928767
hg1828767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587561, nsv587560
Samples1780854235_A
Known GenesLINC00111, LINC00479
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7848n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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