A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671129



Internal ID9590548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26179265..26181683hg38UCSC Ensembl
chr7:26218885..26221303hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6236083, essv6401460
SamplesHG01107, NA18858
Known GenesNFE2L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671129
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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