A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586819



Internal ID6627128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92770539..92772362hg38UCSC Ensembl
Innerchr1:92770573..92772329hg38UCSC Ensembl
Outerchr1:92770506..92772396hg38UCSC Ensembl
chr1:93236096..93237919hg19UCSC Ensembl
Innerchr1:93236130..93237886hg19UCSC Ensembl
Outerchr1:93236063..93237953hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381824
hg191824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10019292, essv10019281, essv10019294, essv10019282, essv10019284, essv10019285, essv10019288, essv10019290, essv10019291, essv10019289, essv10019293, essv10019287, essv10019286, essv10019296, essv10019283, essv10019295
SamplesHG00189, HG02688, HG00334, HG03817, HG00160, NA21129, HG00326, HG03951, NA12829, HG04173, HG03940, NA20530, HG02700, HG02699, HG00288, HG00310
Known GenesEVI5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586819
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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