A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671890



Internal ID9937995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102868936..102869707hg38UCSC Ensembl
chr7:102509383..102510154hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5586818, essv5610075, essv6567644, essv6471182, essv6458892
SamplesHG00650, NA18977, NA18538, NA18541, NA19060
Known GenesFBXL13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671890
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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