A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596103



Internal ID6636376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48248250..48253371hg38UCSC Ensembl
Innerchr3:48248260..48253361hg38UCSC Ensembl
Outerchr3:48248240..48253381hg38UCSC Ensembl
chr3:48289740..48294861hg19UCSC Ensembl
Innerchr3:48289750..48294851hg19UCSC Ensembl
Outerchr3:48289730..48294871hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11004520, essv11004519
SamplesNA19917, HG03858
Known GenesZNF589
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596103
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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