A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7319n100



Internal ID22793406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132783362..132833582hg38UCSC Ensembl
chr8:133795608..133845827hg19UCSC Ensembl
chr8:133864790..133915009hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3850221
hg1950220
hg1850220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022740, nsv1023833, nsv1019269, nsv1018987, nsv1032779
Samples
Known GenesPHF20L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7319n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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