A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497119



Internal ID19360679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55202662..55202888hg38UCSC Ensembl
chr5:54498490..54498716hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675461
Supporting Variants
Samples
Known Genes
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)essv16497119
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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