A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3687520



Internal ID19405528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:722054..722054hg38UCSC Ensembl
chr7:761691..761691hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16471845
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)esv3687520
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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