A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559866



Internal ID18760942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102706040..102706355hg38UCSC Ensembl
Outerchr2:102705975..102706411hg38UCSC Ensembl
Innerchr2:103322499..103322814hg19UCSC Ensembl
Outerchr2:103322434..103322870hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758613
Samples
Known GenesSLC9A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559866
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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