A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560896



Internal ID18761972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208225566..208232713hg38UCSC Ensembl
Outerchr2:208225557..208232747hg38UCSC Ensembl
Innerchr2:209090290..209097437hg19UCSC Ensembl
Outerchr2:209090281..209097471hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387191
hg197191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759643
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560896
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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