A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16502197



Internal ID19019071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110387225..110387384hg38UCSC Ensembl
chr12:110825030..110825189hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3681102
Supporting Variants
Samples
Known GenesANAPC7
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)essv16502197
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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