A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11013171



Internal ID1288002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50959022..50996363hg38UCSC Ensembl
Innerchr3:50959022..50996363hg38UCSC Ensembl
Outerchr3:50958522..50996863hg38UCSC Ensembl
chr3:50996453..51033794hg19UCSC Ensembl
Innerchr3:50996453..51033794hg19UCSC Ensembl
Outerchr3:50995953..51034294hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3837342
hg1937342
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596149
Supporting Variants
SamplesHG01133
Known GenesDOCK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11013171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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