A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6940n100



Internal ID20158556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7417218..7974520hg38UCSC Ensembl
chr8:7274740..7832042hg19UCSC Ensembl
chr8:7262150..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38557303
hg19557303
hg18607303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032014, nsv1026375, nsv1027247, nsv1018380, nsv1032874, nsv1016778, nsv1029943, nsv1018591, nsv1020472, nsv1031311, nsv1034041, nsv1018381, nsv1019585, nsv1025621, nsv1034573, nsv1018417, nsv1017461, nsv1021808, nsv1026666, nsv1032627, nsv1025048, nsv1030312, nsv1029873, nsv1027395, nsv1031927, nsv1019697, nsv1019853, nsv1017697, nsv1032628, nsv1017205, nsv1021564, nsv1015588, nsv1028811, nsv1027317, nsv1035090, nsv1027625, nsv1020053, nsv1015815, nsv1019646, nsv1023370, nsv1026404, nsv1015567, nsv1018026, nsv1015956, nsv1022448, nsv1030518, nsv1018168, nsv1026936, nsv1024987, nsv1032944, nsv1023327, nsv1021961, nsv1016568, nsv1020574, nsv1019841, nsv1029852, nsv1017963, nsv1024146, nsv1032006, nsv1024634, nsv1033226, nsv1027168, nsv1025257, nsv1015517, nsv1031676, nsv1033656, nsv1028964, nsv1019187, nsv1031520, nsv1018680, nsv1017856, nsv1017776, nsv1028679, nsv1023519, nsv1017713, nsv1016711
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)dgv6940n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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