A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464443



Internal ID18981317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78111986..78112133hg38UCSC Ensembl
chr17:76108067..76108214hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3650575
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)essv16464443
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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