A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6934n100



Internal ID20158550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7392846..7598490hg38UCSC Ensembl
chr8:7250368..7456012hg19UCSC Ensembl
chr8:7237778..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38205645
hg19205645
hg18205645
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020702, nsv1028127, nsv1022148
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6934n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss8
Observed Complex0
Frequencyn/a


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