A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487359



Internal ID19004233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57236320..57236320hg38UCSC Ensembl
chr3:57270348..57270348hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3664617
Supporting Variants
Samples
Known GenesAPPL1
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)essv16487359
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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