A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376744



Internal ID14877009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119900361..119924459hg38UCSC Ensembl
InnerchrX:119901361..119923459hg38UCSC Ensembl
OuterchrX:119899361..119925459hg38UCSC Ensembl
chrX:119034324..119058422hg19UCSC Ensembl
InnerchrX:119035324..119057422hg19UCSC Ensembl
OuterchrX:119033324..119059422hg19UCSC Ensembl
chrX:118918352..118942450hg18UCSC Ensembl
InnerchrX:118919352..118941450hg18UCSC Ensembl
OuterchrX:118917352..118943450hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824099
hg1924099
hg1824099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4609e59
Supporting Variantsessv8697459
SamplesNA19239
Known GenesAKAP14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376744
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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