A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3676014



Internal ID19394022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5000816..5000881hg38UCSC Ensembl
chr6:5001050..5001115hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497616
Samples
Known GenesRPP40
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)esv3676014
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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