A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607210



Internal ID6994145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:152751597..152754881hg38UCSC Ensembl
Innerchr5:152751597..152754881hg38UCSC Ensembl
Outerchr5:152751469..152755040hg38UCSC Ensembl
chr5:152131157..152134441hg19UCSC Ensembl
Innerchr5:152131157..152134441hg19UCSC Ensembl
Outerchr5:152131029..152134600hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383285
hg193285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12102832
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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