A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786581



Internal ID19182113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7044556..7068347hg38UCSC Ensembl
Innerchr8:6902078..6925869hg19UCSC Ensembl
Innerchr8:6889488..6913279hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3823792
hg1923792
hg1823792
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891316
Supporting Variants
Samples
Known GenesDEFA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786581
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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