A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5468029



Internal ID8445432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115943510..115947745hg38UCSC Ensembl
chr7:115583564..115587799hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657488
Supporting Variants
SamplesHG00610
Known GenesTFEC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5468029
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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