A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4008n100



Internal ID20155624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95495940..95624527hg38UCSC Ensembl
chr2:96161688..96290275hg19UCSC Ensembl
chr2:95525415..95654002hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38128588
hg19128588
hg18128588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008062, nsv998984, nsv1001305
Samples
Known GenesTRIM43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4008n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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