A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892230



Internal ID18836364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80093180..80136660hg38UCSC Ensembl
Outerchr12:80093180..80136660hg38UCSC Ensembl
Innerchr12:80486960..80530440hg19UCSC Ensembl
Outerchr12:80486960..80530440hg19UCSC Ensembl
Innerchr12:79011091..79054571hg18UCSC Ensembl
Outerchr12:79011091..79054571hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3843481
hg1943481
hg1843481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785315
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892230
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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