A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4135n100



Internal ID22790222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188317580..188400887hg38UCSC Ensembl
chr2:189182307..189265614hg19UCSC Ensembl
chr2:188890552..188973859hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3883308
hg1983308
hg1883308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999135, nsv1010330
Samples
Known GenesGULP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4135n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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