A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7212n100



Internal ID22793299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47556273..47631933hg38UCSC Ensembl
chr8:48468835..48544495hg19UCSC Ensembl
chr8:48631388..48707048hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3875661
hg1975661
hg1875661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030163, nsv1029297
Samples
Known GenesSPIDR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7212n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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