A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3669902



Internal ID19041224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61716776..61716776hg38UCSC Ensembl
chr17:59794137..59794137hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16492116
Samples
Known GenesBRIP1
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)esv3669902
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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