A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614321



Internal ID7001215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101210074..101222993hg38UCSC Ensembl
chr7:100853355..100866274hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3812920
hg1912920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12909999
SamplesNA07347
Known GenesPLOD3, ZNHIT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614321
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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