A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501572



Internal ID19018446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75127445..75127522hg38UCSC Ensembl
chr11:74838490..74838567hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680409
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)essv16501572
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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