A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438049



Internal ID14938316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78902447..78902478hg38UCSC Ensembl
Innerchr4:78902443..78902482hg38UCSC Ensembl
Outerchr4:78902412..78902513hg38UCSC Ensembl
chr4:79823601..79823632hg19UCSC Ensembl
Innerchr4:79823597..79823636hg19UCSC Ensembl
Outerchr4:79823566..79823667hg19UCSC Ensembl
chr4:80042625..80042656hg18UCSC Ensembl
Innerchr4:80042660..80042621hg18UCSC Ensembl
Outerchr4:80042590..80042691hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919604, essv8919601, essv8919602, essv8919605
SamplesNA18508, NA18858, NA18909, NA19225
Known GenesBMP2K
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438049
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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