A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3656199



Internal ID19374207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26761394..26761394hg38UCSC Ensembl
chr15:27006541..27006541hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16479783
Samples
Known GenesGABRB3
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)esv3656199
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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