A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561280



Internal ID18415670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240019537..240019842hg38UCSC Ensembl
Outerchr2:240019466..240019907hg38UCSC Ensembl
Innerchr2:240958954..240959259hg19UCSC Ensembl
Outerchr2:240958883..240959324hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760027
Samples
Known GenesNDUFA10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561280
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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