A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553444



Internal ID18754520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20715936..20716850hg38UCSC Ensembl
Outerchr2:20715745..20716883hg38UCSC Ensembl
Innerchr2:20915696..20916610hg19UCSC Ensembl
Outerchr2:20915505..20916643hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752191
Samples
Known GenesC2orf43
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553444
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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