A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596149



Internal ID6983466
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11013171, essv11013172, essv11013173
SamplesHG01459, HG01133, HG01353
Known GenesDOCK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596149
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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