A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6937n100



Internal ID20158553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7397514..7598490hg38UCSC Ensembl
chr8:7255036..7456012hg19UCSC Ensembl
chr8:7242446..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38200977
hg19200977
hg18200977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029326, nsv1033940
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)dgv6937n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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