A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4149n100



Internal ID20155765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197281159..197371942hg38UCSC Ensembl
chr2:198145883..198236666hg19UCSC Ensembl
chr2:197854128..197944911hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3890784
hg1990784
hg1890784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006595, nsv998896, nsv1001559
Samples
Known GenesANKRD44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4149n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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