A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11222025



Internal ID6009456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169688494..169689200hg38UCSC Ensembl
Innerchr3:169688506..169689189hg38UCSC Ensembl
Outerchr3:169688483..169689212hg38UCSC Ensembl
chr3:169406282..169406988hg19UCSC Ensembl
Innerchr3:169406294..169406977hg19UCSC Ensembl
Outerchr3:169406271..169407000hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598600
Supporting Variants
SamplesNA19404
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11222025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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