A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4238n100



Internal ID22790325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1586796..1618496hg38UCSC Ensembl
chr20:1567442..1599142hg19UCSC Ensembl
chr20:1515442..1547142hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3831701
hg1931701
hg1831701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064066, nsv1060899, nsv1057150, nsv1060549, nsv1067203, nsv1057311, nsv1056496, nsv1059937, nsv1056749, nsv1062801, nsv1061818, nsv1056930, nsv1066770, nsv1065580, nsv1061742, nsv1062222, nsv1060454, nsv1055885, nsv1060282, nsv1057128, nsv1055704, nsv1062461, nsv1059190, nsv1063256, nsv1060286, nsv1067242, nsv1064601, nsv1065789
Samples
Known GenesSIRPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4238n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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