A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3713n100



Internal ID22789800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8517172..8552852hg38UCSC Ensembl
chr2:8657302..8692982hg19UCSC Ensembl
chr2:8574753..8610433hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3835681
hg1935681
hg1835681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000304, nsv1001763, nsv1011736, nsv1000520, nsv1000844, nsv1010262
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3713n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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