A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892269



Internal ID18836403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125025558..125049673hg38UCSC Ensembl
Outerchr12:125024464..125055560hg38UCSC Ensembl
Innerchr12:125510104..125534219hg19UCSC Ensembl
Outerchr12:125509010..125540106hg19UCSC Ensembl
Innerchr12:124076057..124100172hg18UCSC Ensembl
Outerchr12:124074963..124106059hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3831097
hg1931097
hg1831097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788173, essv25788277
Samples
Known GenesBRI3BP
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892269
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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