A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674665



Internal ID377363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7474652..7566620hg38UCSC Ensembl
chr7:7514283..7606251hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3891969
hg1991969
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612087
Supporting Variants
SamplesHG00109
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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