A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561230



Internal ID18762306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237401946..237406357hg38UCSC Ensembl
Outerchr2:237401345..237406857hg38UCSC Ensembl
Innerchr2:238310589..238315000hg19UCSC Ensembl
Outerchr2:238309988..238315500hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385513
hg195513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759977
Samples
Known GenesCOL6A3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561230
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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