A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6912n100



Internal ID20158528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7312955..8197726hg38UCSC Ensembl
chr8:7170477..8055248hg19UCSC Ensembl
chr8:7157887..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38884772
hg19884772
hg18934772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015531, nsv1020398, nsv1035005, nsv1016240, nsv1019661, nsv1021556, nsv1024884, nsv1019185, nsv1015868, nsv1031002, nsv1020471, nsv1033164, nsv1016982, nsv1027695
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)dgv6912n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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