A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678207



Internal ID9944312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7449456..7451581hg38UCSC Ensembl
Outerchr7:7449299..7451734hg38UCSC Ensembl
Innerchr7:7489087..7491212hg19UCSC Ensembl
Outerchr7:7488930..7491365hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5557967
SamplesHG00309
Known GenesCOL28A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678207
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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