A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662700



Internal ID19380708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130108219..130108219hg38UCSC Ensembl
chrX:129242194..129242194hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485633
Samples
Known GenesELF4
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)esv3662700
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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