A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612087



Internal ID6998989
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674665
SamplesHG00109
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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