A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540802



Internal ID18395192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162163456..162165791hg38UCSC Ensembl
Outerchr6:162162969..162165968hg38UCSC Ensembl
Innerchr6:162584488..162586823hg19UCSC Ensembl
Outerchr6:162584001..162587000hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv408e215
Supporting Variantsessv9739549
Samples
Known GenesPARK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540802
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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