A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662834



Internal ID19380842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154741675..154741675hg38UCSC Ensembl
chrX:153969950..153969950hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485754
Samples
Known GenesGAB3
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)esv3662834
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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