A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501301



Internal ID19018175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:10570578..10570672hg38UCSC Ensembl
chr11:10592125..10592219hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680109
Supporting Variants
Samples
Known GenesMRVI1-AS1
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)essv16501301
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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