A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612954



Internal ID6999853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42102564..42129187hg38UCSC Ensembl
chr7:42142163..42168786hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3826624
hg1926624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1283e214
Supporting Variantsessv12752224
SamplesHG03770
Known GenesGLI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612954
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