A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6915n100



Internal ID20158531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7329098..8197726hg38UCSC Ensembl
chr8:7186620..8055248hg19UCSC Ensembl
chr8:7174030..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38868629
hg19868629
hg18918629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034784, nsv1018316, nsv1022437, nsv1028611, nsv1019575, nsv1019077, nsv1018525, nsv1024951, nsv1025358, nsv1023852, nsv1023916, nsv1015422, nsv1020770
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6915n100
Frequency
Sample Size29084
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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