A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599968



Internal ID6987012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25554251..25578592hg38UCSC Ensembl
chr4:25555873..25580214hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3824342
hg1924342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11373367, essv11373354, essv11373360, essv11373361, essv11373374, essv11373369, essv11373349, essv11373351, essv11373357, essv11373355, essv11373368, essv11373376, essv11373356, essv11373363, essv11373358, essv11373370, essv11373353, essv11373359, essv11373366, essv11373375, essv11373371, essv11373372, essv11373350, essv11373362, essv11373364, essv11373365, essv11373373, essv11373352, essv11373348
SamplesNA21128, NA21135, HG03705, HG01492, HG03594, NA11930, HG02597, NA19719, HG01133, NA21106, HG02233, NA19670, HG03990, HG01607, NA21116, HG01447, HG01102, NA19761, NA12778, NA19652, NA20815, HG03899, HG01342, NA20849, HG03849, NA12830, HG03894, HG02348, NA20754
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599968
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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