A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674786



Internal ID19392794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21782640..21782803hg38UCSC Ensembl
chrX:21800758..21800921hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466622
Samples
Known Genes
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)esv3674786
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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