A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302904



Internal ID15149852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82625328..82628167hg38UCSC Ensembl
Innerchr4:82625428..82628067hg38UCSC Ensembl
Outerchr4:82625228..82628267hg38UCSC Ensembl
chr4:83546481..83549320hg19UCSC Ensembl
Innerchr4:83546581..83549220hg19UCSC Ensembl
Outerchr4:83546381..83549420hg19UCSC Ensembl
chr4:83765505..83768344hg18UCSC Ensembl
Innerchr4:83765605..83768244hg18UCSC Ensembl
Outerchr4:83765405..83768444hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg382840
hg192840
hg182840
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737388, essv7735437, essv7738889
SamplesNA18956, NA18858, NA18952
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302904
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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