A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302543



Internal ID15149490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35772671..35772758hg38UCSC Ensembl
Innerchr4:35772714..35772714hg38UCSC Ensembl
Outerchr4:35772571..35772858hg38UCSC Ensembl
chr4:35774293..35774380hg19UCSC Ensembl
Innerchr4:35774336..35774336hg19UCSC Ensembl
Outerchr4:35774193..35774480hg19UCSC Ensembl
chr4:35450688..35450775hg18UCSC Ensembl
Innerchr4:35450731..35450731hg18UCSC Ensembl
Outerchr4:35450588..35450875hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2959e59
Supporting Variantsessv7730978, essv7731675
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302543
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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