A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758825



Internal ID18733071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125035924..125042423hg38UCSC Ensembl
Outerchr2:125035424..125043423hg38UCSC Ensembl
Innerchr2:125793501..125800000hg19UCSC Ensembl
Outerchr2:125793001..125801000hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560078
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758825
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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