A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304401



Internal ID15151349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:34224323..34224324hg38UCSC Ensembl
InnerchrX:34224306..34224341hg38UCSC Ensembl
OuterchrX:34224305..34224342hg38UCSC Ensembl
chrX:34242440..34242441hg19UCSC Ensembl
InnerchrX:34242423..34242458hg19UCSC Ensembl
OuterchrX:34242422..34242459hg19UCSC Ensembl
chrX:34152361..34152362hg18UCSC Ensembl
InnerchrX:34152379..34152344hg18UCSC Ensembl
OuterchrX:34152343..34152380hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7833586, essv7771663, essv7798656, essv7832357, essv7770490, essv7831253, essv7826455, essv7836575, essv7807637, essv7800497, essv7770725, essv7817231, essv7799692, essv7820555, essv7772855, essv7833429, essv7806084, essv7779580, essv7822847, essv7782850, essv7830103, essv7812417, essv7794716, essv7807795, essv7816329, essv7789764, essv7810540, essv7785065, essv7804305, essv7803425, essv7773433, essv7824531, essv7771973, essv7807143, essv7812396, essv7791178, essv7805482, essv7801185, essv7809667, essv7788423, essv7796044, essv7794492, essv7783747, essv7781065, essv7774817, essv7790329, essv7834182, essv7828438, essv7776147, essv7832968, essv7829750, essv7835877, essv7790653, essv7826130, essv7835266
SamplesNA18502, NA12717, NA11830, NA11995, NA18592, NA18508, NA12814, NA12751, NA18545, NA18510, NA07357, NA18940, NA18550, NA18547, NA18960, NA18942, NA18571, NA18498, NA19238, NA19172, NA12815, NA18520, NA19239, NA18605, NA12878, NA12872, NA18948, NA18907, NA18537, NA18566, NA18573, NA18499, NA11894, NA12892, NA19099, NA19257, NA18523, NA18858, NA18945, NA18576, NA12043, NA18608, NA18542, NA18517, NA18564, NA19240, NA19143, NA18501, NA12749, NA19102, NA19116, NA12006, NA18511, NA07000, NA12154
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304401
Frequency
Sample Size185
Observed Gain55
Observed Loss0
Observed Complex0
Frequencyn/a


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