A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3685771



Internal ID19057093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65286988..65287154hg38UCSC Ensembl
chr12:65680768..65680934hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16470271
Samples
Known GenesMSRB3
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)esv3685771
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