A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6936n100



Internal ID20158552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7392846..7974520hg38UCSC Ensembl
chr8:7250368..7832042hg19UCSC Ensembl
chr8:7237778..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38581675
hg19581675
hg18631675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029955, nsv1021561, nsv1031759, nsv1031683, nsv1015377, nsv1032294, nsv1034480, nsv1019475, nsv1016697, nsv1017674, nsv1020244, nsv1026485, nsv1022852, nsv1025661, nsv1017547, nsv1019765, nsv1029921, nsv1031838, nsv1029587, nsv1019384, nsv1028781, nsv1031507, nsv1029716, nsv1033481, nsv1025792, nsv1015978, nsv1029780, nsv1017571, nsv1028773, nsv1016821, nsv1033239, nsv1033461, nsv1028881, nsv1019018, nsv1027523, nsv1016315, nsv1021497, nsv1021927, nsv1029042, nsv1028704, nsv1024231, nsv1031765, nsv1015569, nsv1024393, nsv1023777, nsv1017949, nsv1029222, nsv1031687, nsv1029349, nsv1033311, nsv1019564, nsv1031830, nsv1019887, nsv1033912, nsv1024459, nsv1032272, nsv1025158, nsv1030477, nsv1030416, nsv1027040, nsv1033924, nsv1028373, nsv1019082, nsv1034008, nsv1016926, nsv1034661, nsv1035089, nsv1020854, nsv1025607, nsv1031540, nsv1034635, nsv1025452
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6936n100
Frequency
Sample Size29084
Observed Gain730
Observed Loss467
Observed Complex0
Frequencyn/a


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