A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629920



Internal ID6670059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71887511..71889536hg38UCSC Ensembl
Innerchr12:71887511..71889536hg38UCSC Ensembl
Outerchr12:71887300..71889764hg38UCSC Ensembl
chr12:72281291..72283316hg19UCSC Ensembl
Innerchr12:72281291..72283316hg19UCSC Ensembl
Outerchr12:72281080..72283544hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382026
hg192026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14529786
SamplesNA19717
Known GenesTBC1D15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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