A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748301



Internal ID18375861
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 StatusS
Merged Variantsesv3549554
Supporting Variants
Samples
Known GenesWDR64
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748301
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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