A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613108



Internal ID7000006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49360026..49368544hg38UCSC Ensembl
Innerchr7:49360046..49368524hg38UCSC Ensembl
Outerchr7:49360006..49368564hg38UCSC Ensembl
chr7:49399622..49408140hg19UCSC Ensembl
Innerchr7:49399642..49408120hg19UCSC Ensembl
Outerchr7:49399602..49408160hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg388519
hg198519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12766473, essv12766474
SamplesHG03672, NA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613108
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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