A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3797n100



Internal ID22789884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43262141..43328666hg38UCSC Ensembl
chr2:43489280..43555805hg19UCSC Ensembl
chr2:43342784..43409309hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3866526
hg1966526
hg1866526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010068, nsv1004491
Samples
Known GenesTHADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3797n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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