A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3650463



Internal ID19368471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72191473..72191473hg38UCSC Ensembl
chr9:74806389..74806389hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16474620
Samples
Known GenesGDA
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)esv3650463
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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