A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599346



Internal ID6639611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68022..136350hg38UCSC Ensembl
chr4:67914..130131hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3868329
hg1962218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11313841, essv11313838, essv11313839, essv11313833, essv11313836, essv11313840, essv11313835, essv11313837, essv11313834, essv11313842
SamplesHG00351, NA20511, HG02002, HG01500, NA19982, NA19773, HG01625, NA20769, NA12275, NA20810
Known GenesZNF595, ZNF718
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599346
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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