A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e198



Internal ID22757744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37721964..37726646hg38UCSC Ensembl
chr18:35301927..35306609hg19UCSC Ensembl
chr18:33555925..33560607hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384683
hg194683
hg184683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656316, esv2656245, esv2656219, esv2656270, esv2656254, esv2656407, esv2656175, esv2656357
Samples2343 [38], 2306 [5], 2351 [45], 2354 [48], 2303 [2], 2244 [61], 2361 [54], 2245 [62], 2357 [51]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)dgv12e198
Frequency
Sample Size64
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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