A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659051



Internal ID9578470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9971923..9971944hg38UCSC Ensembl
Outerchr19:9971787..9972076hg38UCSC Ensembl
Innerchr19:10082620..10082599hg19UCSC Ensembl
Outerchr19:10082463..10082752hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5613366, essv6230606, essv6580227, essv6147103, essv5750565, essv6536077, essv6521990, essv5960369, essv5596980, essv6197176, essv6484172, essv5771780, essv6328509, essv6189948, essv5842478, essv5673960, essv5776748, essv5433119, essv6385095, essv5438567, essv6033920, essv6163300, essv6408973, essv5571801, essv6211411, essv6478861, essv5697464, essv5909182, essv6073708, essv5424116, essv5787464, essv5639482, essv5843314, essv6342207, essv6576172, essv6047244, essv5592253, essv6112462, essv5595413, essv6089671, essv5436373, essv5648475, essv5921233, essv5603309, essv6533145
SamplesHG00323, HG00252, NA20527, HG01072, HG01052, HG01055, NA18523, NA19114, HG00437, NA18612, NA19093, NA20544, NA19401, HG00707, NA18511, HG00657, HG00614, HG00475, HG00375, NA18507, HG00557, NA19147, HG01171, NA12763, HG00346, NA18566, NA18623, HG01061, HG00315, NA11933, NA12829, HG00254, NA12830, NA19190, NA19360, NA18620, HG00260, HG00273, HG00513, HG00246, HG00236, NA18909, HG00693, HG00320, NA20517
Known GenesCOL5A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659051
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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