A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7021n100



Internal ID20158637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12092030..12698533hg38UCSC Ensembl
chr8:11949539..12556042hg19UCSC Ensembl
chr8:11986948..12600413hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38606504
hg19606504
hg18613466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031929, nsv1028057
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7021n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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