A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3680321



Internal ID19398329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64010851..64010948hg38UCSC Ensembl
chr11:63778323..63778420hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16501493
Samples
Known GenesMACROD1
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)esv3680321
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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