A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680170



Internal ID19398178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:31749902..31750042hg38UCSC Ensembl
chr11:31771450..31771590hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501357
Samples
Known GenesELP4
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)esv3680170
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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