A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789539



Internal ID19182701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7039648..7056328hg38UCSC Ensembl
Innerchr8:6897170..6913850hg19UCSC Ensembl
Innerchr8:6884580..6901260hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816681
hg1916681
hg1816681
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891317
Supporting Variants
Samples
Known GenesDEFA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789539
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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