A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549711



Internal ID18404101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243262069..243262336hg38UCSC Ensembl
Outerchr1:243262005..243262377hg38UCSC Ensembl
Innerchr1:243425371..243425638hg19UCSC Ensembl
Outerchr1:243425307..243425679hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748458
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549711
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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