A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567215



Internal ID18421605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825079..108829078hg38UCSC Ensembl
Outerchr1:108824287..108829419hg38UCSC Ensembl
Innerchr1:109367701..109371700hg19UCSC Ensembl
Outerchr1:109366909..109372041hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385133
hg195133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765962
Samples
Known GenesAKNAD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567215
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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