A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481596



Internal ID19345156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44426603..44426603hg38UCSC Ensembl
chr17:42503971..42503971hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658213
Supporting Variants
Samples
Known GenesGPATCH8
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)essv16481596
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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