A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7055n100



Internal ID22793142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12585534hg38UCSC Ensembl
chr8:12232269..12443043hg19UCSC Ensembl
chr8:12276640..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38210775
hg19210775
hg18210775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023521, nsv1017482, nsv1017181, nsv1022091, nsv1026421, nsv1023891, nsv1019565, nsv1025017, nsv1021105, nsv1021317, nsv1021121, nsv1033503, nsv1027586, nsv1035082, nsv1019569, nsv1018983, nsv1034205, nsv1027022
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7055n100
Frequency
Sample Size11257
Observed Gain351
Observed Loss77
Observed Complex0
Frequencyn/a


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