A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542744



Internal ID18743820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174009343..174013362hg38UCSC Ensembl
Outerchr1:174008863..174013862hg38UCSC Ensembl
Innerchr1:173978481..173982500hg19UCSC Ensembl
Outerchr1:173978001..173983000hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741491
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542744
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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