A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542612



Internal ID18743688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147657974..147658273hg38UCSC Ensembl
Outerchr7:147657920..147658352hg38UCSC Ensembl
Innerchr7:147355066..147355365hg19UCSC Ensembl
Outerchr7:147355012..147355444hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv455e215
Supporting Variantsessv9741359
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542612
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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