A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542496



Internal ID18396886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137888312..137889079hg38UCSC Ensembl
Outerchr7:137888249..137889096hg38UCSC Ensembl
Innerchr7:137573058..137573825hg19UCSC Ensembl
Outerchr7:137572995..137573842hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741243
Samples
Known GenesCREB3L2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542496
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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