A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16500893



Internal ID19364453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100807345..100807397hg38UCSC Ensembl
chr10:102567102..102567154hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3679654
Supporting Variants
Samples
Known GenesPAX2
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)essv16500893
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