A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633796



Internal ID7020602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23980549..23995578hg38UCSC Ensembl
chr14:24449758..24464787hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3815030
hg1915030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14942007, essv14941989, essv14942000, essv14942002, essv14941999, essv14941988, essv14941983, essv14941987, essv14941994, essv14942001, essv14941984, essv14941995, essv14942003, essv14941993, essv14941992, essv14941996, essv14941986, essv14941997, essv14941990, essv14941985, essv14941998, essv14941982, essv14941991, essv14942005, essv14942006, essv14942004
SamplesHG01795, NA21127, HG02150, HG00318, HG03926, HG02394, HG00663, NA20795, NA21103, HG02281, HG03785, HG01119, NA18534, HG01414, HG00690, NA20282, HG01956, NA21143, HG01980, NA19749, HG02179, NA19323, HG03600, HG01577, HG03925, NA18552
Known GenesDHRS4L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633796
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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