A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11088829



Internal ID3581535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101822234..101824260hg38UCSC Ensembl
Innerchr3:101822234..101824260hg38UCSC Ensembl
Outerchr3:101821995..101824310hg38UCSC Ensembl
chr3:101541078..101543104hg19UCSC Ensembl
Innerchr3:101541078..101543104hg19UCSC Ensembl
Outerchr3:101540839..101543154hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597197
Supporting Variants
SamplesHG03168
Known GenesNXPE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11088829
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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