A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541647



Internal ID18742723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:52452481..52452665hg38UCSC Ensembl
Outerchr7:52452441..52452711hg38UCSC Ensembl
Innerchr7:52520177..52520361hg19UCSC Ensembl
Outerchr7:52520137..52520407hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740394
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541647
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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