A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596378



Internal ID6636649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62725640..62730314hg38UCSC Ensembl
Innerchr3:62725690..62730155hg38UCSC Ensembl
Outerchr3:62725436..62730518hg38UCSC Ensembl
chr3:62711315..62715989hg19UCSC Ensembl
Innerchr3:62711365..62715830hg19UCSC Ensembl
Outerchr3:62711111..62716193hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384675
hg194675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026547, essv11026535, essv11026556, essv11026539, essv11026569, essv11026557, essv11026564, essv11026548, essv11026561, essv11026532, essv11026567, essv11026570, essv11026555, essv11026534, essv11026573, essv11026527, essv11026566, essv11026571, essv11026568, essv11026537, essv11026553, essv11026542, essv11026572, essv11026538, essv11026559, essv11026574, essv11026530, essv11026526, essv11026545, essv11026560, essv11026551, essv11026565, essv11026536, essv11026554, essv11026550, essv11026546, essv11026544, essv11026549, essv11026540, essv11026562, essv11026543, essv11026563, essv11026528, essv11026541, essv11026533, essv11026531, essv11026558, essv11026529, essv11026552
SamplesHG03136, NA18870, HG03521, NA18501, HG02943, NA18516, HG02722, HG02885, HG02884, NA18489, NA19144, NA19210, NA19379, HG02274, HG03538, HG03378, HG03109, NA20340, HG02585, HG01378, HG02577, HG03559, NA19908, HG03052, NA19774, HG03539, HG01879, HG02595, HG02283, HG02814, HG03085, NA19713, HG02429, HG02343, HG01889, HG03433, HG02545, HG01894, HG02479, HG01149, HG03303, NA18907, NA18879, HG02489, NA19160, NA19198, NA18908, NA19385, NA19439
Known GenesCADPS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596378
Frequency
Sample Size2504
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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