A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892245



Internal ID19183065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90731139..90793554hg38UCSC Ensembl
Outerchr12:90731139..90793739hg38UCSC Ensembl
Innerchr12:91124916..91187331hg19UCSC Ensembl
Outerchr12:91124916..91187516hg19UCSC Ensembl
Innerchr12:89649047..89711462hg18UCSC Ensembl
Outerchr12:89649047..89711647hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3862601
hg1962601
hg1862601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797257, essv25785270, essv25796868, essv25784189, essv25801008, essv25796242, essv25787698
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892245
Frequency
Sample Size3017
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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