A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3688712



Internal ID19406720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129339916..129339916hg38UCSC Ensembl
chr7:128979757..128979757hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16472918
Samples
Known GenesAHCYL2
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)esv3688712
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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