A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597767



Internal ID6984905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130451619..130453171hg38UCSC Ensembl
Innerchr3:130451631..130453159hg38UCSC Ensembl
Outerchr3:130451607..130453183hg38UCSC Ensembl
chr3:130170463..130172015hg19UCSC Ensembl
Innerchr3:130170475..130172003hg19UCSC Ensembl
Outerchr3:130170451..130172027hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381553
hg191553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151553
SamplesNA19437
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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