A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3676195



Internal ID19047517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41058120..41058371hg38UCSC Ensembl
chr6:41025859..41026110hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497780
Samples
Known GenesAPOBEC2
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)esv3676195
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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