A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3687220



Internal ID19405228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142978148..142978148hg38UCSC Ensembl
chr6:143299285..143299285hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16471575
Samples
Known GenesLOC100507489
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)esv3687220
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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