A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3674291



Internal ID19045613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70304658..70304659hg38UCSC Ensembl
chrX:69524508..69524509hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496066
Samples
Known GenesKIF4A
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)esv3674291
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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