A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3649242



Internal ID19020564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57106379..57106443hg38UCSC Ensembl
chr17:55183740..55183804hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464323
Samples
Known GenesAKAP1
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)esv3649242
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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