A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559896



Internal ID18414286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105772065..105774970hg38UCSC Ensembl
Outerchr2:105772059..105774987hg38UCSC Ensembl
Innerchr2:106388522..106391427hg19UCSC Ensembl
Outerchr2:106388516..106391444hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382929
hg192929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758643
Samples
Known GenesNCK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559896
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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