A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680404



Internal ID19398412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74139909..74140096hg38UCSC Ensembl
chr11:73850954..73851141hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501568
Samples
Known GenesC2CD3
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)esv3680404
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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