A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672657



Internal ID19043979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48687632..48687789hg38UCSC Ensembl
chr10:49895677..49895834hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494595
Samples
Known GenesWDFY4
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)esv3672657
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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