A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596120



Internal ID6636393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49186496..49196758hg38UCSC Ensembl
Innerchr3:49186546..49196708hg38UCSC Ensembl
Outerchr3:49186416..49196838hg38UCSC Ensembl
chr3:49223929..49234191hg19UCSC Ensembl
Innerchr3:49223979..49234141hg19UCSC Ensembl
Outerchr3:49223849..49234271hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810263
hg1910263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11009357, essv11009358
SamplesHG02274, HG03063
Known GenesC3orf84
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596120
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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