A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554200



Internal ID18755276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28161709..28161922hg38UCSC Ensembl
Outerchr2:28161702..28161932hg38UCSC Ensembl
Innerchr2:28384576..28384789hg19UCSC Ensembl
Outerchr2:28384569..28384799hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752947
Samples
Known GenesBRE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554200
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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