A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302523



Internal ID15149470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173399527..173399679hg38UCSC Ensembl
Innerchr4:173399603..173399603hg38UCSC Ensembl
Outerchr4:173399427..173399779hg38UCSC Ensembl
chr4:174320678..174320830hg19UCSC Ensembl
Innerchr4:174320754..174320754hg19UCSC Ensembl
Outerchr4:174320578..174320930hg19UCSC Ensembl
chr4:174557253..174557405hg18UCSC Ensembl
Innerchr4:174557329..174557329hg18UCSC Ensembl
Outerchr4:174557153..174557505hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3120e59
Supporting Variantsessv7731518, essv7731057, essv7731249, essv7730975, essv7731570, essv7731093
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302523
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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