A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597192



Internal ID6984506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101690497..101692929hg38UCSC Ensembl
Innerchr3:101690543..101692883hg38UCSC Ensembl
Outerchr3:101690451..101692975hg38UCSC Ensembl
chr3:101409341..101411773hg19UCSC Ensembl
Innerchr3:101409387..101411727hg19UCSC Ensembl
Outerchr3:101409295..101411819hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg382433
hg192433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11088337, essv11088338
SamplesNA20505, HG00105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597192
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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