A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151962



Internal ID1153778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131362337..131382214hg38UCSC Ensembl
Innerchr3:131362337..131382214hg38UCSC Ensembl
Outerchr3:131362066..131382504hg38UCSC Ensembl
chr3:131081181..131101058hg19UCSC Ensembl
Innerchr3:131081181..131101058hg19UCSC Ensembl
Outerchr3:131080910..131101348hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3819878
hg1919878
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597789
Supporting Variants
SamplesHG02968
Known GenesLOC339874, NUDT16, NUDT16P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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