A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657923



Internal ID9924028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65794372..65795428hg38UCSC Ensembl
chr4:66660090..66661146hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6120051, essv6259420, essv5551944, essv6393466, essv6478253
SamplesNA18486, HG01461, NA18870, NA18499, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657923
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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