A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11224316



Internal ID1730221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170675106..170685927hg38UCSC Ensembl
Innerchr3:170675106..170685927hg38UCSC Ensembl
Outerchr3:170675023..170686029hg38UCSC Ensembl
chr3:170392895..170403716hg19UCSC Ensembl
Innerchr3:170392895..170403716hg19UCSC Ensembl
Outerchr3:170392812..170403818hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3810822
hg1910822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598632
Supporting Variants
SamplesHG01603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11224316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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