A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675934



Internal ID9595353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55591501..55595724hg38UCSC Ensembl
Outerchr4:55591344..55595877hg38UCSC Ensembl
Innerchr4:56457668..56461891hg19UCSC Ensembl
Outerchr4:56457511..56462044hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384534
hg194534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5600893
SamplesHG00262
Known GenesNMU, PDCL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675934
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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