A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555489



Internal ID18756565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41746157..41748722hg38UCSC Ensembl
Outerchr2:41745613..41748904hg38UCSC Ensembl
Innerchr2:41973297..41975862hg19UCSC Ensembl
Outerchr2:41972753..41976044hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754236
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555489
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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