A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553833



Internal ID18408223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24216702..24217115hg38UCSC Ensembl
Outerchr2:24216700..24217143hg38UCSC Ensembl
Innerchr2:24439571..24439984hg19UCSC Ensembl
Outerchr2:24439569..24440012hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752580
Samples
Known GenesITSN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553833
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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