A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4178n100



Internal ID20155794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226667748..226857385hg38UCSC Ensembl
chr2:227532464..227722101hg19UCSC Ensembl
chr2:227240708..227430345hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38189638
hg19189638
hg18189638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011443, nsv1012241
Samples
Known GenesIRS1, RHBDD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4178n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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