A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3686187



Internal ID19057509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15250962..15250962hg38UCSC Ensembl
chr6:15251193..15251193hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16470645
Samples
Known GenesJARID2
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)esv3686187
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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