A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678484



Internal ID9597903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:141411075..141411190hg38UCSC Ensembl
Outerchr7:141411038..141411240hg38UCSC Ensembl
Innerchr7:141110875..141110990hg19UCSC Ensembl
Outerchr7:141110838..141111040hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5664448, essv5986902, essv6201803, essv5591328, essv5844230, essv5881009
SamplesNA07347, HG00274, HG01174, HG00353, HG00421, HG01066
Known GenesTMEM178B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678484
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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