A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491565



Internal ID19008440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240512504..240512504hg38UCSC Ensembl
chr1:240675804..240675804hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669290
Supporting Variants
Samples
Known GenesGREM2
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)essv16491565
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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