A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5500331



Internal ID8477734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43585279..43592478hg38UCSC Ensembl
chr7:43624878..43632077hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665229
Supporting Variants
SamplesNA20522
Known GenesSTK17A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5500331
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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