A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16467586



Internal ID19331146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235788457..235788515hg38UCSC Ensembl
chr2:236697101..236697159hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682788
Supporting Variants
Samples
Known GenesAGAP1
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)essv16467586
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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