A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7029n100



Internal ID20158645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12305218..12389965hg38UCSC Ensembl
chr8:12162727..12247474hg19UCSC Ensembl
chr8:12207096..12291845hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884748
hg1984748
hg1884750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019990, nsv1020271
Samples
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7029n100
Frequency
Sample Size29084
Observed Gain30
Observed Loss3
Observed Complex0
Frequencyn/a


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