A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653071



Internal ID13734685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6950058..6950058hg38UCSC Ensembl
Innerchr12:6950057..6950059hg38UCSC Ensembl
Outerchr12:6950008..6950108hg38UCSC Ensembl
chr12:7059221..7059221hg19UCSC Ensembl
Innerchr12:7059220..7059222hg19UCSC Ensembl
Outerchr12:7059171..7059271hg19UCSC Ensembl
chr12:6929482..6929482hg18UCSC Ensembl
Innerchr12:6929483..6929481hg18UCSC Ensembl
Outerchr12:6929432..6929532hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381081
hg191081
hg181081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381477
Supporting Variants
SamplesNA12892
Known GenesPTPN6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653071
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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