A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7025n100



Internal ID20158641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12130205..12585534hg38UCSC Ensembl
chr8:11987714..12443043hg19UCSC Ensembl
chr8:12025123..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38455330
hg19455330
hg18462292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016069, nsv1032644, nsv1029077, nsv1018693, nsv1027216, nsv1020118, nsv1025844, nsv1024922, nsv1033910, nsv1019642, nsv1026642, nsv1024548, nsv1017093, nsv1034439, nsv1024173, nsv1027170, nsv1021901, nsv1015274, nsv1029604, nsv1034802
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7025n100
Frequency
Sample Size29084
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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