A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5544998



Internal ID8522401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141465345..141468745hg38UCSC Ensembl
chr7:141165145..141168545hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672376
Supporting Variants
SamplesNA18610
Known GenesTMEM178B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5544998
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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