A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440187



Internal ID14940454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29726404..29726450hg38UCSC Ensembl
Innerchr12:29726415..29726436hg38UCSC Ensembl
Outerchr12:29726369..29726485hg38UCSC Ensembl
chr12:29879337..29879383hg19UCSC Ensembl
Innerchr12:29879348..29879369hg19UCSC Ensembl
Outerchr12:29879302..29879418hg19UCSC Ensembl
chr12:29770604..29770650hg18UCSC Ensembl
Innerchr12:29770636..29770615hg18UCSC Ensembl
Outerchr12:29770569..29770685hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956629, essv8956628, essv8956625, essv8956627
SamplesNA12249, NA19005, NA18961, NA18945
Known GenesTMTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440187
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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