A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451587



Internal ID14951846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29734660..29734701hg38UCSC Ensembl
Innerchr12:29734678..29734683hg38UCSC Ensembl
Outerchr12:29734637..29734724hg38UCSC Ensembl
chr12:29887593..29887634hg19UCSC Ensembl
Innerchr12:29887611..29887616hg19UCSC Ensembl
Outerchr12:29887570..29887657hg19UCSC Ensembl
chr12:29778860..29778901hg18UCSC Ensembl
Innerchr12:29778883..29778878hg18UCSC Ensembl
Outerchr12:29778837..29778924hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956630, essv8956631
SamplesNA18579, NA18944
Known GenesTMTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451587
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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