A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469812



Internal ID19333372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78011041..78011041hg38UCSC Ensembl
chr5:77306865..77306865hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685262
Supporting Variants
Samples
Known GenesAP3B1
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)essv16469812
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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