A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3657581



Internal ID19375589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:76408340..76408340hg38UCSC Ensembl
chr16:76442237..76442237hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16481027
Samples
Known GenesCNTNAP4
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)esv3657581
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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