A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631286



Internal ID7018096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132081589..132083552hg38UCSC Ensembl
Innerchr12:132081589..132083552hg38UCSC Ensembl
Outerchr12:132081340..132083757hg38UCSC Ensembl
chr12:132566134..132568097hg19UCSC Ensembl
Innerchr12:132566134..132568097hg19UCSC Ensembl
Outerchr12:132565885..132568302hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14646874, essv14646875
SamplesNA19920, NA19834
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631286
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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