A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678018



Internal ID9944123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:46214406..46216537hg38UCSC Ensembl
Outerchr7:46214249..46216690hg38UCSC Ensembl
Innerchr7:46254004..46256135hg19UCSC Ensembl
Outerchr7:46253847..46256288hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382442
hg192442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5672566
SamplesHG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678018
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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