A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630312



Internal ID7017131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89045427..89051276hg38UCSC Ensembl
Innerchr12:89045427..89051276hg38UCSC Ensembl
Outerchr12:89045342..89051351hg38UCSC Ensembl
chr12:89439204..89445053hg19UCSC Ensembl
Innerchr12:89439204..89445053hg19UCSC Ensembl
Outerchr12:89439119..89445128hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg385850
hg195850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565601, essv14565603, essv14565602
SamplesNA19795, NA19785, NA19726
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630312
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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