A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3346n100



Internal ID22789433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46920296..46959260hg38UCSC Ensembl
chr18:44500259..44539223hg19UCSC Ensembl
chr18:42754257..42793221hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3838965
hg1938965
hg1838965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062444, nsv1062682, nsv1057629
Samples
Known GenesKATNAL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3346n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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