A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672692



Internal ID19390700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869912..52869967hg38UCSC Ensembl
chr1:53335584..53335639hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494626
Samples
Known GenesZYG11A
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)esv3672692
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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