A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11224345



Internal ID5292970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170947147..170961205hg38UCSC Ensembl
Innerchr3:170947160..170961193hg38UCSC Ensembl
Outerchr3:170947135..170961218hg38UCSC Ensembl
chr3:170664936..170678994hg19UCSC Ensembl
Innerchr3:170664949..170678982hg19UCSC Ensembl
Outerchr3:170664924..170679007hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3814059
hg1914059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598638
Supporting Variants
SamplesNA18747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11224345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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