A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16487127



Internal ID19004001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119596920..119597027hg38UCSC Ensembl
chrX:118730883..118730990hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3664359
Supporting Variants
Samples
Known GenesNKRF
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)essv16487127
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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