A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487416



Internal ID19350976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141906126..141906548hg38UCSC Ensembl
chrX:140993912..140994334hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3664681
Supporting Variants
Samples
Known GenesMAGEC1
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)essv16487416
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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