A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557110



Internal ID18758186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55837491..55838947hg38UCSC Ensembl
Outerchr2:55837484..55838948hg38UCSC Ensembl
Innerchr2:56064626..56066082hg19UCSC Ensembl
Outerchr2:56064619..56066083hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755857
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557110
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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