A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740748



Internal ID15083190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15988711..15988711hg38UCSC Ensembl
Innerchr12:15988710..15988712hg38UCSC Ensembl
Outerchr12:15988661..15988761hg38UCSC Ensembl
chr12:16141645..16141645hg19UCSC Ensembl
Innerchr12:16141644..16141646hg19UCSC Ensembl
Outerchr12:16141595..16141695hg19UCSC Ensembl
chr12:16032912..16032912hg18UCSC Ensembl
Innerchr12:16032913..16032911hg18UCSC Ensembl
Outerchr12:16032862..16032962hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358865
Supporting Variants
SamplesNA19240
Known GenesDERA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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