A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542513



Internal ID18743589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139424865..139425201hg38UCSC Ensembl
Outerchr7:139424784..139425259hg38UCSC Ensembl
Innerchr7:139109611..139109947hg19UCSC Ensembl
Outerchr7:139109530..139110005hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741260
Samples
Known GenesLOC100129148
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542513
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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