A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694516



Internal ID14698459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8233325..8235023hg38UCSC Ensembl
Innerchr4:8234023..8234325hg38UCSC Ensembl
Outerchr4:8232325..8236023hg38UCSC Ensembl
chr4:8235052..8236750hg19UCSC Ensembl
Innerchr4:8235750..8236052hg19UCSC Ensembl
Outerchr4:8234052..8237750hg19UCSC Ensembl
chr4:8285952..8287650hg18UCSC Ensembl
Innerchr4:8286952..8286650hg18UCSC Ensembl
Outerchr4:8284952..8288650hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363340
Supporting Variants
SamplesNA19239
Known GenesSH3TC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694516
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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