A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562539



Internal ID18763615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130628900..130633996hg38UCSC Ensembl
Outerchr3:130628602..130634335hg38UCSC Ensembl
Innerchr3:130347744..130352840hg19UCSC Ensembl
Outerchr3:130347446..130353179hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385734
hg195734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761286
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562539
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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