A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009357



Internal ID1011173
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596120
Supporting Variants
SamplesHG02274
Known GenesC3orf84
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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