A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552689



Internal ID18753765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11879634..11882749hg38UCSC Ensembl
Outerchr2:11878891..11883029hg38UCSC Ensembl
Innerchr2:12019760..12022875hg19UCSC Ensembl
Outerchr2:12019017..12023155hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg384139
hg194139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751436
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552689
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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