A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543200



Internal ID18397590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638158..179638808hg38UCSC Ensembl
Outerchr1:179638111..179638968hg38UCSC Ensembl
Innerchr1:179607293..179607943hg19UCSC Ensembl
Outerchr1:179607246..179608103hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741947
Samples
Known GenesTDRD5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543200
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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