A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674201



Internal ID9940306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106387836..106389781hg38UCSC Ensembl
chr7:106028282..106030227hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381946
hg191946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5927822, essv5912938, essv6020394, essv6057203, essv5655229, essv6207493, essv5563694, essv5431902, essv5560943
SamplesHG00187, NA18633, NA18618, NA18973, NA19007, HG00583, HG00500, HG00479, NA19060
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674201
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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