A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11224320



Internal ID6042996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170676193..170684415hg38UCSC Ensembl
Innerchr3:170676193..170684415hg38UCSC Ensembl
Outerchr3:170675693..170684915hg38UCSC Ensembl
chr3:170393982..170402204hg19UCSC Ensembl
Innerchr3:170393982..170402204hg19UCSC Ensembl
Outerchr3:170393482..170402704hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg388223
hg198223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598633
Supporting Variants
SamplesNA19443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11224320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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