A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481496



Internal ID19345056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35771430..35771430hg38UCSC Ensembl
chr17:34098449..34098449hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658102
Supporting Variants
Samples
Known GenesMMP28
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)essv16481496
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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