A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647335



Internal ID6687390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22031460..22245870hg38UCSC Ensembl
Innerchr22:22031460..22245870hg38UCSC Ensembl
Outerchr22:22031179..22245946hg38UCSC Ensembl
chr22:22385858..22600282hg19UCSC Ensembl
Innerchr22:22385858..22600282hg19UCSC Ensembl
Outerchr22:22385577..22600358hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38214411
hg19214425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16371301, essv16371296, essv16371297, essv16371298, essv16371282, essv16371285, essv16371279, essv16371287, essv16371290, essv16371289, essv16371280, essv16371300, essv16371293, essv16371284, essv16371303, essv16371281, essv16371302, essv16371288, essv16371304, essv16371278, essv16371294, essv16371295, essv16371286, essv16371292, essv16371291, essv16371299, essv16371277, essv16371283
SamplesNA19204, HG02394, HG00158, NA12005, HG03268, HG03380, HG03058, NA19210, NA12878, HG02165, NA18981, HG03382, NA11893, NA18856, HG02141, NA12827, NA18523, NA18646, HG03240, NA12873, NA07037, HG03557, HG02032, HG02051, HG03445, HG02947, NA20772, NA20511
Known GenesVPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647335
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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