A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3663076



Internal ID19381084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16758976..16759028hg38UCSC Ensembl
chrX:16777099..16777151hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485972
Samples
Known GenesSYAP1
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)esv3663076
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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