A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5916n54



Internal ID22773811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47247809..47249202hg38UCSC Ensembl
chr18:44774180..44775573hg19UCSC Ensembl
chr18:43028178..43029571hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381394
hg191394
hg181394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576821, nsv576822
Samples
Known GenesSKOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5916n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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