A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557467



Internal ID18758543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60473001..60473050hg38UCSC Ensembl
Outerchr2:60472999..60473052hg38UCSC Ensembl
Innerchr2:60700136..60700185hg19UCSC Ensembl
Outerchr2:60700134..60700187hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv243e215
Supporting Variantsessv9756214
Samples
Known GenesBCL11A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557467
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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