A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304235



Internal ID14804497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29726412..29726413hg38UCSC Ensembl
Innerchr12:29726359..29726466hg38UCSC Ensembl
Outerchr12:29726358..29726467hg38UCSC Ensembl
chr12:29879345..29879346hg19UCSC Ensembl
Innerchr12:29879292..29879399hg19UCSC Ensembl
Outerchr12:29879291..29879400hg19UCSC Ensembl
chr12:29770612..29770613hg18UCSC Ensembl
Innerchr12:29770666..29770559hg18UCSC Ensembl
Outerchr12:29770558..29770667hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762949, essv7754454, essv7745728, essv7743576
SamplesNA19005, NA12249, NA18945, NA18961
Known GenesTMTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304235
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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