A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602016



Internal ID6989050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121811764..121818497hg38UCSC Ensembl
chr4:122732919..122739652hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386734
hg196734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11590647, essv11590650, essv11590651, essv11590652, essv11590645, essv11590649, essv11590644, essv11590646, essv11590653, essv11590654, essv11590648, essv11590655
SamplesHG04156, HG03837, NA20861, HG03976, HG04131, HG02597, NA21105, NA21098, NA21141, HG03740, HG01936, HG00119
Known GenesCCNA2, EXOSC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602016
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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