A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5867301



Internal ID8995781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7465078..7471144hg38UCSC Ensembl
chr7:7504709..7510775hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386067
hg196067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673536
Supporting Variants
SamplesHG00593
Known GenesCOL28A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5867301
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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