A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16467230



Internal ID19330790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124517527..124517635hg38UCSC Ensembl
chr2:125275104..125275212hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3681540
Supporting Variants
Samples
Known GenesCNTNAP5
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)essv16467230
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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