A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12931071



Internal ID730893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112792950..112833439hg38UCSC Ensembl
chr7:112433005..112473494hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3840490
hg1940490
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614631
Supporting Variants
SamplesHG00343
Known GenesC7orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12931071
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