A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4098n100



Internal ID20155714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164760606..164789055hg38UCSC Ensembl
chr2:165617116..165645565hg19UCSC Ensembl
chr2:165325362..165353811hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3828450
hg1928450
hg1828450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998036, nsv999327
Samples
Known GenesCOBLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4098n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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