A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783070



Internal ID19176597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:200997..256161hg38UCSC Ensembl
Innerchr20:181638..236802hg19UCSC Ensembl
Innerchr20:129638..184802hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3855165
hg1955165
hg1855165
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893262
Supporting Variants
Samples
Known GenesDEFB129
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783070
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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