A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669575



Internal ID9935680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12237689..12244534hg38UCSC Ensembl
chr7:12277315..12284160hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386846
hg196846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5614724
SamplesNA19066
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669575
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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