A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694519



Internal ID14736448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82903475..82904273hg38UCSC Ensembl
Innerchr4:82903474..82904274hg38UCSC Ensembl
Outerchr4:82902475..82905273hg38UCSC Ensembl
chr4:83824628..83825426hg19UCSC Ensembl
Innerchr4:83824627..83825427hg19UCSC Ensembl
Outerchr4:83823628..83826426hg19UCSC Ensembl
chr4:84043652..84044450hg18UCSC Ensembl
Innerchr4:84044451..84043651hg18UCSC Ensembl
Outerchr4:84042652..84045450hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3425333
Supporting Variants
SamplesNA19240
Known GenesTHAP9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694519
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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