A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3676363



Internal ID19047685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71170145..71170202hg38UCSC Ensembl
chrX:70389995..70390052hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16466764
Samples
Known GenesNLGN3
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)esv3676363
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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