A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3665543



Internal ID19036865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41911061..41911193hg38UCSC Ensembl
chr6:41878799..41878931hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16488193
Samples
Known GenesMED20
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)esv3665543
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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