A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567619



Internal ID18768695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34349522..34351555hg38UCSC Ensembl
Outerchr6:34349242..34351870hg38UCSC Ensembl
Innerchr6:34317299..34319332hg19UCSC Ensembl
Outerchr6:34317019..34319647hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382629
hg192629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766366
Samples
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567619
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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