A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597769



Internal ID6984907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130457269..130490623hg38UCSC Ensembl
Innerchr3:130457269..130490623hg38UCSC Ensembl
Outerchr3:130456769..130491123hg38UCSC Ensembl
chr3:130176113..130209467hg19UCSC Ensembl
Innerchr3:130176113..130209467hg19UCSC Ensembl
Outerchr3:130175613..130209967hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3833355
hg1933355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151557, essv11151556, essv11151555
SamplesHG04002, HG03986, HG04171
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597769
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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