A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305876



Internal ID15152824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21279972..21279973hg38UCSC Ensembl
Innerchr7:21279925..21280020hg38UCSC Ensembl
Outerchr7:21279924..21280021hg38UCSC Ensembl
chr7:21319590..21319591hg19UCSC Ensembl
Innerchr7:21319543..21319638hg19UCSC Ensembl
Outerchr7:21319542..21319639hg19UCSC Ensembl
chr7:21286115..21286116hg18UCSC Ensembl
Innerchr7:21286163..21286068hg18UCSC Ensembl
Outerchr7:21286067..21286164hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755637, essv7752019, essv7743992, essv7751618, essv7761996, essv7743177, essv7746618, essv7745773
SamplesNA18947, NA18916, NA18949, NA18858, NA18945, NA19108, NA18943, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305876
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