A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891318



Internal ID18839028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7204888..7917598hg38UCSC Ensembl
Outerchr8:7085559..8207524hg38UCSC Ensembl
Innerchr8:7062410..7775120hg19UCSC Ensembl
Outerchr8:6943081..8065046hg19UCSC Ensembl
Innerchr8:7049820..7812530hg18UCSC Ensembl
Outerchr8:6930491..8102456hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381121966
hg191121966
hg181171966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791586, essv25791709, essv25790528, essv25791498, essv25792015, essv25791864, essv25790071, essv25791297
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891318
Frequency
Sample Size3017
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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