A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541364



Internal ID18395754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:26183443..26183554hg38UCSC Ensembl
Outerchr7:26183437..26183561hg38UCSC Ensembl
Innerchr7:26223063..26223174hg19UCSC Ensembl
Outerchr7:26223057..26223181hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740111
Samples
Known GenesNFE2L3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541364
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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