A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593983



Internal ID6634261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201739017..201740119hg38UCSC Ensembl
Innerchr2:201739051..201740086hg38UCSC Ensembl
Outerchr2:201738984..201740153hg38UCSC Ensembl
chr2:202603740..202604842hg19UCSC Ensembl
Innerchr2:202603774..202604809hg19UCSC Ensembl
Outerchr2:202603707..202604876hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823214, essv10823221, essv10823215, essv10823219, essv10823216, essv10823220, essv10823217, essv10823218
SamplesNA19030, NA19072, NA19451, NA19308, HG02484, NA19035, NA19448, NA19439
Known GenesALS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593983
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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