A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16479887



Internal ID18996761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40954967..40954967hg38UCSC Ensembl
chr15:41247165..41247165hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3656314
Supporting Variants
Samples
Known GenesCHAC1
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)essv16479887
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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