A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628342



Internal ID6668485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3240150..3248511hg38UCSC Ensembl
Innerchr12:3240150..3248511hg38UCSC Ensembl
Outerchr12:3240038..3248655hg38UCSC Ensembl
chr12:3349316..3357677hg19UCSC Ensembl
Innerchr12:3349316..3357677hg19UCSC Ensembl
Outerchr12:3349204..3357821hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg388362
hg198362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14338336
SamplesNA18638
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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