A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3676835



Internal ID19394843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:603677..603761hg38UCSC Ensembl
chr7:643314..643398hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16498355
Samples
Known GenesPRKAR1B
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)esv3676835
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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