A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672138



Internal ID19390146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143412785..143413507hg38UCSC Ensembl
chr1:148939492..148940214hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494128
Samples
Known GenesLOC101929780, LOC645166
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)esv3672138
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