A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4139n100



Internal ID22790226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192501762..192681272hg38UCSC Ensembl
chr2:193366488..193545998hg19UCSC Ensembl
chr2:193074733..193254243hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38179511
hg19179511
hg18179511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010629, nsv1002384
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4139n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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