A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6946n100



Internal ID20158562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7471679..7838727hg38UCSC Ensembl
chr8:7329201..7696249hg19UCSC Ensembl
chr8:7316611..7733659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38367049
hg19367049
hg18417049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025897, nsv1021400, nsv1031594, nsv1024287, nsv1015661, nsv1015944, nsv1020300, nsv1032285, nsv1024040, nsv1024741, nsv1028111, nsv1016223, nsv1022149, nsv1024740, nsv1026761, nsv1032412
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6946n100
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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