A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3657860



Internal ID19029182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6991041..6991041hg38UCSC Ensembl
chr17:6894360..6894360hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481279
Samples
Known GenesLOC100506713
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)esv3657860
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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