A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623233



Internal ID6663401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51443933..51454467hg38UCSC Ensembl
Innerchr10:51443954..51454447hg38UCSC Ensembl
Outerchr10:51443913..51454488hg38UCSC Ensembl
chr10:53203693..53214227hg19UCSC Ensembl
Innerchr10:53203714..53214207hg19UCSC Ensembl
Outerchr10:53203673..53214248hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3810535
hg1910535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13803827, essv13803821, essv13803815, essv13803814, essv13803823, essv13803826, essv13803830, essv13803832, essv13803831, essv13803825, essv13803828, essv13803829, essv13803822, essv13803819, essv13803820, essv13803817, essv13803824, essv13803818, essv13803816
SamplesHG01413, HG01356, NA20798, HG01198, NA20587, HG03709, HG00380, HG00360, NA12878, NA20809, HG01161, NA20866, HG02292, HG01474, HG01113, NA21094, HG01055, HG01105, HG01507
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623233
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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