A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11123069



Internal ID1124885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122388272..122393246hg38UCSC Ensembl
Innerchr3:122388272..122393246hg38UCSC Ensembl
Outerchr3:122388053..122393389hg38UCSC Ensembl
chr3:122107119..122112093hg19UCSC Ensembl
Innerchr3:122107119..122112093hg19UCSC Ensembl
Outerchr3:122106900..122112236hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg384975
hg194975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597608
Supporting Variants
SamplesNA19431
Known GenesFAM162A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11123069
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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