A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546244



Internal ID18747320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212910955..212912827hg38UCSC Ensembl
Outerchr1:212910885..212912886hg38UCSC Ensembl
Innerchr1:213084297..213086169hg19UCSC Ensembl
Outerchr1:213084227..213086228hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744991
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546244
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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