A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792015



Internal ID18821280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7085559..8207524hg38UCSC Ensembl
Innerchr8:6943081..8065046hg19UCSC Ensembl
Innerchr8:6930491..8102456hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381121966
hg191121966
hg181171966
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891318
Supporting Variants
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
CommentsNumber of probes=143
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792015
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer