A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560935



Internal ID18415325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212383498..212393424hg38UCSC Ensembl
Outerchr2:212383202..212394567hg38UCSC Ensembl
Innerchr2:213248222..213258148hg19UCSC Ensembl
Outerchr2:213247926..213259291hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3811366
hg1911366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759682
Samples
Known GenesERBB4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560935
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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