A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397819



Internal ID15244782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174015173..174015207hg38UCSC Ensembl
Innerchr4:174015186..174015191hg38UCSC Ensembl
Outerchr4:174015155..174015225hg38UCSC Ensembl
chr4:174936324..174936358hg19UCSC Ensembl
Innerchr4:174936337..174936342hg19UCSC Ensembl
Outerchr4:174936306..174936376hg19UCSC Ensembl
chr4:175172899..175172933hg18UCSC Ensembl
Innerchr4:175172917..175172912hg18UCSC Ensembl
Outerchr4:175172881..175172951hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8922234, essv8922232, essv8922230, essv8922229, essv8922228, essv8922233, essv8922235, essv8922231
SamplesNA19138, NA18498, NA19137, NA19114, NA18858, NA19108, NA19102, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397819
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer