A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669468



Internal ID9935573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148973013..148979673hg38UCSC Ensembl
chr7:148670105..148676765hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg386661
hg196661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5915529, essv5499712, essv5768524, essv6375236, essv6235910, essv5606665, essv6348978, essv6099045, essv5753752
SamplesHG01389, NA12348, HG01072, HG01176, NA20818, HG00137, NA20510, NA19726, HG01112
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669468
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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