A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672637



Internal ID19390645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6431628..6431629hg38UCSC Ensembl
chr1:6491688..6491689hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494577
Samples
Known GenesESPN
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)esv3672637
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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