A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664657



Internal ID19035979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63892457..63892457hg38UCSC Ensembl
chr3:63878133..63878133hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16487395
Samples
Known GenesATXN7
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)esv3664657
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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