A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672425



Internal ID9591844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52255756..52258962hg38UCSC Ensembl
Outerchr10:52255385..52259332hg38UCSC Ensembl
Innerchr10:54015516..54018722hg19UCSC Ensembl
Outerchr10:54015145..54019092hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6125664, essv5917476, essv5805477, essv6079835, essv5918013, essv6217667, essv5722918, essv6369924, essv5754897, essv5596597, essv5640034, essv5646876, essv5656151, essv5959220, essv6462863, essv6508094, essv5770134
SamplesHG01060, HG01173, HG00641, HG01168, HG00736, HG01083, HG01069, HG01072, HG01198, HG01048, HG00732, HG01095, HG01101, HG01107, HG00638, HG01174, HG01061
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672425
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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