A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5809444



Internal ID9240025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109037443..109038795hg38UCSC Ensembl
chr1:109580065..109581417hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381353
hg191353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658750
Supporting Variants
SamplesNA11994
Known GenesWDR47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5809444
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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