A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3749n100



Internal ID20155365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32402917..33110441hg38UCSC Ensembl
chr2:32627985..33335508hg19UCSC Ensembl
chr2:32481489..33189012hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38707525
hg19707524
hg18707524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005978, nsv1010038, nsv1012897, nsv1008695, nsv1001300, nsv1000398, nsv1002573, nsv1005357, nsv998111
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3749n100
Frequency
Sample Size29084
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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