A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3688903



Internal ID19406911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42177268..42177351hg38UCSC Ensembl
chr17:40329286..40329369hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16464280
Samples
Known GenesKCNH4
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)esv3688903
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer