A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539687



Internal ID18394077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47597359..47598958hg38UCSC Ensembl
Outerchr6:47596905..47599339hg38UCSC Ensembl
Innerchr6:47565095..47566694hg19UCSC Ensembl
Outerchr6:47564641..47567075hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382435
hg192435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738434
Samples
Known GenesCD2AP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539687
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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