A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6442838



Internal ID9629180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54141348..54146761hg38UCSC Ensembl
chr4:55007515..55012928hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385414
hg195414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667144
Supporting Variants
SamplesNA19350
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6442838
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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