A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549554



Internal ID18403944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241668286..241668644hg38UCSC Ensembl
Outerchr1:241668248..241668668hg38UCSC Ensembl
Innerchr1:241831588..241831946hg19UCSC Ensembl
Outerchr1:241831550..241831970hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748301
Samples
Known GenesWDR64
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549554
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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