A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16466620



Internal ID19330180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19738699..19739015hg38UCSC Ensembl
chrX:19756817..19757133hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674763
Supporting Variants
Samples
Known GenesSH3KBP1
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)essv16466620
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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