A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605650



Internal ID6992588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84459561..84491445hg38UCSC Ensembl
chr5:83755379..83787263hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3831885
hg1931885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11959161, essv11959175, essv11959173, essv11959159, essv11959160, essv11959171, essv11959162, essv11959168, essv11959166, essv11959158, essv11959167, essv11959169, essv11959174, essv11959164, essv11959165, essv11959170, essv11959163, essv11959172
SamplesNA20321, HG03499, NA20320, HG02054, NA20287, HG02922, HG01242, HG02554, HG01161, HG02586, HG03064, HG02667, HG03304, HG03313, NA19102, HG03410, HG02947, NA19153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605650
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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