A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587504



Internal ID6627806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150301806..150317823hg38UCSC Ensembl
Innerchr1:150301806..150317823hg38UCSC Ensembl
Outerchr1:150301308..150318323hg38UCSC Ensembl
chr1:150274234..150290267hg19UCSC Ensembl
Innerchr1:150274234..150290267hg19UCSC Ensembl
Outerchr1:150273734..150290767hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3816018
hg1916034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145160
SamplesHG03951
Known GenesMRPS21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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