A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11021417



Internal ID4338629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58163783..58164719hg38UCSC Ensembl
Innerchr3:58163821..58164681hg38UCSC Ensembl
Outerchr3:58163745..58164757hg38UCSC Ensembl
chr3:58149510..58150446hg19UCSC Ensembl
Innerchr3:58149548..58150408hg19UCSC Ensembl
Outerchr3:58149472..58150484hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596240
Supporting Variants
SamplesHG03882
Known GenesFLNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11021417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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