A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560439



Internal ID18414829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160120352..160120731hg38UCSC Ensembl
Outerchr2:160120337..160120744hg38UCSC Ensembl
Innerchr2:160976863..160977242hg19UCSC Ensembl
Outerchr2:160976848..160977255hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759186
Samples
Known GenesITGB6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560439
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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