A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7020n100



Internal ID20158636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12092030..12520766hg38UCSC Ensembl
chr8:11949539..12378275hg19UCSC Ensembl
chr8:11986948..12422646hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38428737
hg19428737
hg18435699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018976, nsv1028365, nsv1030017, nsv1020893, nsv1016781, nsv1022790, nsv1022207, nsv1016008
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, 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)dgv7020n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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