A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599496



Internal ID6986542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5761228..5780036hg38UCSC Ensembl
chr4:5762955..5781763hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3818809
hg1918809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11327866, essv11327865, essv11327863, essv11327862, essv11327864
SamplesNA20846, HG03765, HG03604, HG04185, HG04177
Known GenesEVC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599496
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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