A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372386



Internal ID14872645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899113..14899127hg38UCSC Ensembl
InnerchrX:14899106..14899131hg38UCSC Ensembl
OuterchrX:14899092..14899145hg38UCSC Ensembl
chrX:14917235..14917249hg19UCSC Ensembl
InnerchrX:14917228..14917253hg19UCSC Ensembl
OuterchrX:14917214..14917267hg19UCSC Ensembl
chrX:14827156..14827170hg18UCSC Ensembl
InnerchrX:14827174..14827149hg18UCSC Ensembl
OuterchrX:14827135..14827188hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38243
hg19243
hg18243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978019, essv8978020, essv8978002, essv8978000, essv8978006, essv8978017, essv8978016, essv8978005, essv8978011, essv8978010, essv8978008, essv8978001, essv8978007, essv8978022, essv8978013, essv8978009, essv8978014, essv8978012, essv8978021, essv8978018
SamplesNA12249, NA07347, NA12750, NA07037, NA19093, NA11918, NA18545, NA11931, NA18573, NA07051, NA12414, NA11919, NA12763, NA07357, NA12716, NA06986, NA12003, NA11993, NA18571, NA11829
Known GenesMOSPD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372386
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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