A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16498974



Internal ID19362534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134665247..134665671hg38UCSC Ensembl
chr7:134349999..134350423hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3677522
Supporting Variants
Samples
Known GenesBPGM
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16498974
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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